Gaetan Lesca

Affiliations
  • Equipe GENDEV, Centre de Recherche en Neurosciences de Lyon, Inserm U1028, CNRS UMR5292, Université Lyon 1, Université St Etienne, Lyon, France.
  • Service de génétique et Centre de Référence Maladies Rares des Anomalies du Développement CLAD Sud-Est, Hospices Civils de Lyon, Lyon, France.

Publications (90)

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.

PloS one
Avec: Clara Benoit-Pilven , Alicia Besson , Audrey Putoux , Claire Benetollo , Clément Saccaro , Justine Guguin , Gabriel Sala , Audric Cologne , Marion Delous , Richard A Padgett , Anne-Louise Leutenegger , Vincent Lacroix , Patrick Edery , Sylvie Mazoyer

Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Epilepsia
Avec: Marina Trivisano , Alessandro Ferretti , Elizabeth Bebin , Linda Huh , Aleksandra Siekierska , Ryo Takeguchi , Maryline Carneiro , Luca De Palma , Ilaria Guella , Kazuhiro Haginoya , Ruo Ming Shi , Atsuo Kikuchi , Tomoko Kobayashi , Julien Jung , Lieven Lagae , Mathieu Milh , Marie L Mathieu , Berge A Minassian , Antonio Novelli , Nicola Pietrafusa , Eri Takeshita , Marco Tartaglia , Alessandra Terracciano , Michelle L Thompson , Gregory M Cooper , Federico Vigevano , Laurent Villard , Nathalie Villeneuve , Gunnar M Buyse , Michelle Demos , Ingrid E Scheffer , Nicola Specchio

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Human mutation
Avec: Godelieve Morel , Céline Duhamel , Simon Boussion , Frédéric Frénois , Nicolas Chatron , Audrey Labalme , Damien Sanlaville , Patrick Edery , Julien Thevenon , Laurence Faivre , Alice Fassier , Olivier Prodhomme , Fabienne Escande , Sylvie Manouvrier , Florence Petit , David Geneviève , Massimiliano Rossi

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics
Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Nicolas Chatron , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Jozef Gecz , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

European journal of medical genetics
Avec: Sara Cabet , Audrey Putoux , Maryline Carneiro , Audrey Labalme , Damien Sanlaville , Laurent Guibaud ,

Treatment Responsiveness in KCNT1-Related Epilepsy.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Avec: Mark P Fitzgerald , Martina Fiannacca , Douglas M Smith , Tracy S Gertler , Boudewijn Gunning , Steffen Syrbe , Nienke Verbeek , Hannah Stamberger , Sarah Weckhuysen , Berten Ceulemans , An-Sofie Schoonjans , Massimiliano Rossi , Geneviève Demarquay , Kern Olofsson , D A Koolen , Frauke Hornemann , Stephanie Baulac , Guido Rubboli , Kelly Q Minks , Bohoon Lee , Ingo Helbig , Dennis Dlugos , Rikke S Møller , David Bearden

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal of medical genetics
Avec: Caroline Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel , Alexandra Afenjar , Florence Amblard , Jeanne Amiel , Sophie Blesson , Patrick Callier , Yline Capri , Patrick Collignon , Marie-Pierre Cordier , Christine Coubes , Benedicte Demeer , Annabelle Chaussenot , Florence Demurger , Françoise Devillard , Martine Doco-Fenzy , Céline Dupont , Jean-Michel Dupont , Sophie Dupuis-Girod , Laurence Faivre , Brigitte Gilbert-Dussardier , Anne-Marie Guerrot , Marine Houlier , Bertrand Isidor , Sylvie Jaillard , Géraldine Joly-Hélas , Valérie Kremer , Didier Lacombe , Cédric Le Caignec , Aziza Lebbar , Marine Lebrun , James Lespinasse , Jonathan Levy , Valérie Malan , Michele Mathieu-Dramard , Julie Masson , Alice Masurel-Paulet , Cyril Mignot , Chantal Missirian , Fanny Morice-Picard , Sébastien Moutton , Gwenaël Nadeau , Céline Pebrel-Richard , Sylvie Odent , Véronique Paquis-Flucklinger , Laurent Pasquier , Nicole Philip , Morgane Plutino , Linda Pons , Marie-France Portnoï , Fabienne Prieur , Jacques Puechberty , Audrey Putoux , Marlène Rio , Caroline Rooryck-Thambo , Massimiliano Rossi , Catherine Sarret , Véronique Satre , Jean-Pierre Siffroi , Marianne Till , Renaud Touraine , Annick Toutain , Jérome Toutain , Stéphanie Valence , Alain Verloes , Sandra Whalen , Patrick Edery , Anne-Claude Tabet , Damien Sanlaville

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Orphanet journal of rare diseases
Avec: Julie Masson , Caroline Demily , Nicolas Chatron , Audrey Labalme , Pierre-Antoine Rollat-Farnier , Caroline Schluth-Bolard , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Renaud Touraine , Sylvie Tordjman , Alain Verloes , Giuseppe Testa , Damien Sanlaville , Patrick Edery , Massimiliano Rossi

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Human mutation
Avec: Penelope Jordan , Guillaume Dorval , Christelle Arrondel , Vincent Morinière , Carole Tournant , Marie-Pierre Audrezet , Laurence Michel-Calemard , Audrey Putoux , Gaethan Lesca , Audrey Labalme , Sandra Whalen , Laurence Loeuillet , Jelena Martinovic , Tania Attie-Bitach , Bettina Bessières , Elise Schaefer , Sophie Scheidecker , Laetitia Lambert , Claire Beneteau , Olivier Patat , Odile Boute-Benejean , Arnaud Molin , Fabien Guimiot , Nicolas Fontanarosa , Mathilde Nizon , Mathilde Lefebvre , Cécile Jeanpierre , Sophie Saunier , Laurence Heidet

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Journal of medical genetics
Avec: Pasquelena De Nittis , Stephanie Efthymiou , Alexandre Sarre , Nicolas Guex , Jacqueline Chrast , Audrey Putoux , Tipu Sultan , Javeria Raza Alvi , Zia Ur Rahman , Faisal Zafar , Nuzhat Rana , Fatima Rahman , Najwa Anwar , Shazia Maqbool , Maha S Zaki , Joseph G Gleeson , David Murphy , Hamid Galehdari , Gholamreza Shariati , Neda Mazaheri , Alireza Sedaghat , Auteur inconnu , Nicolas Chatron , Vincenzo Salpietro , Marilena Christoforou , Henry Houlden , William F Simonds , Thierry Pedrazzini , Reza Maroofian , Alexandre Reymond

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

American journal of human genetics
Avec: Hui Guo , Qiumeng Zhang , Rujia Dai , Bin Yu , Kendra Hoekzema , Jieqiong Tan , Senwei Tan , Xiangbin Jia , Wendy K Chung , Rebecca Hernan , Fowzan S Alkuraya , Ahood Alsulaiman , Mohammad A Al-Muhaizea , Linda Pons , Audrey Labalme , Linda Laux , Emily Bryant , Natasha J Brown , Elena Savva , Samantha Ayres , Dhamidhu Eratne , Hilde Peeters , Frédéric Bilan , Lucile Letienne-Cejudo , Brigitte Gilbert-Dussardier , Inge-Lore Ruiz-Arana , Jenny Meylan Merlini , Alexia Boizot , Lucia Bartoloni , Federico Santoni , Danielle Karlowicz , Marie McDonald , Huidan Wu , Zhengmao Hu , Guodong Chen , Jianjun Ou , Charlotte Brasch-Andersen , Christina R Fagerberg , Inken Dreyer , Anne Chun-Hui Tsai , Valerie Slegesky , Rose B McGee , Brina Daniels , Elizabeth A Sellars , Lori A Carpenter , Bradley Schaefer , Maria J Guillen Sacoto , Amber Begtrup , Rhonda E Schnur , Sumit Punj , Ingrid M Wentzensen , Lindsay Rhodes , Qian Pan , Raphael A Bernier , Chao Chen , Evan E Eichler , Kun Xia

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.

Human mutation
Avec: Judith Halewa , Sylviane Marouillat , Manon Dixneuf , Rose-Anne Thépault , Dévina C Ung , Nicolas Chatron , Bénédicte Gérard , Jamal Ghoumid , Gaëtan Lesca , Marianne Till , Thomas Smol , Nathalie Couque , Lyse Ruaud , Valérie Chune , Sarah Grotto , Alain Verloes , Marie-Laure Vuillaume , Annick Toutain , Martine Raynaud , Frédéric Laumonnier

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Brain : a journal of neurology
Avec: Katrine M Johannesen , Yuanyuan Liu , Mahmoud Koko , Cathrine E Gjerulfsen , Lukas Sonnenberg , Julian Schubert , Christina D Fenger , Ahmed Eltokhi , Maert Rannap , Nils A Koch , Stephan Lauxmann , Johanna Krüger , Josua Kegele , Laura Canafoglia , Silvana Franceschetti , Thomas Mayer , Johannes Rebstock , Pia Zacher , Susanne Ruf , Michael Alber , Katalin Sterbova , Petra Lassuthová , Marketa Vlckova , Johannes R Lemke , Konrad Platzer , Ilona Krey , Constanze Heine , Dagmar Wieczorek , Judith Kroell-Seger , Caroline Lund , Karl Martin Klein , P Y Billie Au , Jong M Rho , Alice W Ho , Silvia Masnada , Pierangelo Veggiotti , Lucio Giordano , Patrizia Accorsi , Christina E Hoei-Hansen , Pasquale Striano , Federico Zara , Helene Verhelst , Judith S Verhoeven , Hilde M H Braakman , Bert van der Zwaag , Aster V E Harder , Eva Brilstra , Manuela Pendziwiat , Sebastian Lebon , Maria Vaccarezza , Ngoc Minh Le , Jakob Christensen , Sabine Grønborg , Stephen W Scherer , Jennifer Howe , Walid Fazeli , Katherine B Howell , Richard Leventer , Chloe Stutterd , Sonja Walsh , Marion Gerard , Bénédicte Gerard , Sara Matricardi , Claudia M Bonardi , Stefano Sartori , Andrea Berger , Dorota Hoffman-Zacharska , Massimo Mastrangelo , Francesca Darra , Arve Vøllo , M Mahdi Motazacker , Phillis Lakeman , Mathilde Nizon , Cornelia Betzler , Cecilia Altuzarra , Roseline Caume , Agathe Roubertie , Philippe Gélisse , Carla Marini , Renzo Guerrini , Frederic Bilan , Daniel Tibussek , Margarete Koch-Hogrebe , M Scott Perry , Shoji Ichikawa , Elena Dadali , Artem Sharkov , Irina Mishina , Mikhail Abramov , Ilya Kanivets , Sergey Korostelev , Sergey Kutsev , Karen E Wain , Nancy Eisenhauer , Monisa Wagner , Juliann M Savatt , Karen Müller-Schlüter , Haim Bassan , Artem Borovikov , Marie Cecile Nassogne , Anne Destrée , An Sofie Schoonjans , Marije Meuwissen , Marga Buzatu , Anna Jansen , Emmanuel Scalais , Siddharth Srivastava , Wen Hann Tan , Heather E Olson , Tobias Loddenkemper , Annapurna Poduri , Katherine L Helbig , Ingo Helbig , Mark P Fitzgerald , Ethan M Goldberg , Timo Roser , Ingo Borggraefe , Tobias Brünger , Patrick May , Dennis Lal , Damien Lederer , Guido Rubboli , Henrike O Heyne , Ulrike B S Hedrich , Jan Benda , Elena Gardella , Holger Lerche , Rikke S Møller

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Marie Le Roux , Magalie Barth , Sophie Gueden , Patrick Desbordes de Cepoy , Alec Aeby , Catheline Vilain , Edouard Hirsch , Anne de Saint Martin , Vincent des Portes , Gaëtan Lesca , Audrey Riquet , Laurence Chaton , Nathalie Villeneuve , Laurent Villard , Claude Cances , Luc Valton , Florence Renaldo , Anne-Isabelle Vermersch , Cecilia Altuzarra , Marie-Ange Nguyen-Morel , Julien Van Gils , Chloé Angelini , Arnaud Biraben , Lionel Arnaud , Florence Riant , Patrick Van Bogaert

Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.

BMC psychiatry
Avec: Christophe Gauld , Alice Poisson , Julie Reversat , Elodie Peyroux , Françoise Houdayer-Robert , Massimiliano Rossi , Damien Sanlaville , Caroline Demily

CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Pauline Garel , Dorothée Ville , Anne-Lise Poulat , Nicolas Chatron , Damien Sanlaville , Vincent Des Portes , Alexis Arzimanoglou , Laurence Lion-François

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Flavien Rouxel , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Michael Levy , Patricia Dias , Mouna Barat-Houari , Nathalie Bednarek , Odile Boute , Nicolas Chatron , Florian Cherik , Andrée Delahaye-Duriez , Martine Doco-Fenzy , Laurence Faivre , Lucas W Gauthier , Delphine Heron , Michael S Hildebrand , Gaëtan Lesca , James Lespinasse , Benoit Mazel , Leonie A Menke , Angela T Morgan , Lucile Pinson , Chloe Quelin , Massimiliano Rossi , Nathalie Ruiz-Pallares , Frederic Tran-Mau-Them , Imke N Van Kessel , Marie Vincent , Mathys Weber , Marjolaine Willems , Gwenael Leguyader , Bekim Sadikovic , David Genevieve

Gain of function due to increased opening probability by two

Proceedings of the National Academy of Sciences of the United States of America
Avec: Mario Nappi , Vincenzo Barrese , Lidia Carotenuto , Audrey Labalme , Dorothee Ville , Thomas Smol , Mélanie Rama , Anne Dieux-Coeslier , Clotilde Rivier-Ringenbach , Maria Virginia Soldovieri , Paolo Ambrosino , Ilaria Mosca , Michael Pusch , Francesco Miceli , Maurizio Taglialatela

Molecular and Phenotypic Characterization of the

Neurology
Avec: Zeynep Gokce-Samar , Annalisa Vetro , Julitta De Bellescize , Tiziana Pisano , Laloe Monteiro , Noémie Penaud , Christian M Korff , Joel Fluss , Carla Marini , Elisabetta Cesaroni , Blanca Mercedes Alvarez , Damien Sanlaville , Nicolas Chatron , Alexis A Arzimanoglou , Audrey Labalme , Vishnu A Cuddapah , Sarah M Ruggiero , Francois Lecoquierre , Gael Nicolas , Guerrot Anne Marie , Axel Lebas , Herve O Testard , Katherine L Helbig , Anna Ruiz , Adeline Ngoh , Manju A Kurian , Kimberley Reid , Robert Spaull , Pascal Joset , Georgia Ramantani , Katharina Steindl , Martin Krenn , Lucia Gerstl , Silvia Vieker , Dana Craiu , Manuela Pendziwiat , Chad Haldeman-Englert , Ilya Kanivets , Irina Romanova , Deepa S Rajan , Jill A Rosenfeld , Margaret Au , Katheryn Grand , John M , Arnaud Isapof , Nathalie Villeneuve , Thomas Smol , Roseline Caumes , Pia Zacher , Sonja Neuser , Sigrid Tinschert , Konrad Platzer , Tobias Bartolomaeus , Ines Mohnke , Maximilian Radtke , Rami Abou Jamra , Ingo Helbig , Floortje E Jansen , Klaas Koop , Gabrielle Rudolf , Sebastien Küry , Julien Courchet , Renzo Guerrini ,

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.

Epilepsia
Avec: Lotten Ragnarsson , Zihan Zhang , Sooraj S Das , Poanna Tran , Åsa Andersson , Vincent des Portes , Cecilia Desmettre Altuzarra , Ganaelle Remerand , Audrey Labalme , Nicolas Chatron , Damien Sanlaville , Victor Anggono , Irina Vetter , Angelo Keramidas

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Brain : a journal of neurology
Avec: Ralf A Husain , Xinfu Jiao , J Christopher Hennings , Jan Giesecke , Geeta Palsule , Stefanie Beck-Wödl , Dina Osmanović , Kathrine Bjørgo , Asif Mir , Muhammad Ilyas , Saad M Abbasi , Stephanie Efthymiou , Natalia Dominik , Reza Maroofian , Henry Houlden , Julia Rankin , Alistair T Pagnamenta , Marwan Nashabat , Waleed Altwaijri , Majid Alfadhel , Muhammad Umair , Ebtissal Khouj , William Reardon , Ayman W El-Hattab , Mohammed Mekki , Gunnar Houge , Christian Beetz , Peter Bauer , Audrey Putoux , Damien Sanlaville , Fowzan S Alkuraya , Robert W Taylor , Hans-Joachim Mentzel , Christian A Hübner , Peter Huppke , Ronald P Hart , Tobias B Haack , Megerditch Kiledjian , Ignacio Rubio

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Epilepsia
Avec: Benedetta Kassabian , Amanda M Levy , Elena Gardella , Angel Aledo-Serrano , Amitha L Ananth , Alejandro J Brea-Fernández , Roseline Caumes , Nicolas Chatron , Alice Dainelli , Matthias De Wachter , Anne-Sophie Denommé-Pichon , Thomas J Dye , Elisa Fazzi , Roxanne Felt , Alberto Fernández-Jaén , Montserrat Fernández-Prieto , Emily Gantz , Piotr Gasperowicz , Antonio Gil-Nagel , David Gómez-Andrés , Hansel M Greiner , Renzo Guerrini , Maria K Haanpää , Minttu Helin , Juliane Hoyer , Anna C E Hurst , Staci Kallish , Shefali N Karkare , Amjad Khan , Lotte Kleinendorst , Johannes Koch , Sanjeev V Kothare , Suzanna V Koudijs , Lieven Lagae , Phillis Lakeman , Kathleen A Leppig , Diego Lopergolo , Laina Lusk , Alex Mackenzie , Davide Mei , Rikke S Møller , Elaine M Pereira , Konrad Platzer , Chloe Quelin , Anya Revah-Politi , Sylvain Rheims , Agustí Rodríguez-Palmero , Andrea Rossi , Filippo Santorelli , Syndi Seinfeld , Erick Sell , Donna Stephenson , Krzysztof Szczaluba , Eugen Trinka , Muhammad Umair , Hilde Van Esch , Mieke M van Haelst , Danielle C M Veenma , Sacha Weber , Sarah Weckhuysen , Pia Zacher , Zeynep Tümer , Guido Rubboli

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.

Neurology
Avec: Hannah Stamberger , David Crosiers , Ganna Balagura , Claudia M Bonardi , Anna Basu , Gaetano Cantalupo , Valentina Chiesa , Jakob Christensen , Bernardo Dalla Bernardina , Colin A Ellis , Francesca Furia , Fiona Gardiner , Camille Giron , Renzo Guerrini , Karl Martin Klein , Christian Korff , Hana Krijtova , Melanie Leffler , Holger Lerche , David Lewis-Smith , Carla Marini , Dragan Marjanovic , Laure Mazzola , Sarah McKeown Ruggiero , Fanny Mochel , Francis Ramond , Philipp S Reif , Aurélie Richard-Mornas , Felix Rosenow , Christian Schropp , Rhys H Thomas , Aglaia Vignoli , Yvonne Weber , Elizabeth Palmer , Ingo Helbig , Ingrid E Scheffer , Pasquale Striano , Rikke S Møller , Elena Gardella , Sarah Weckhuysen

The different clinical facets of

Frontiers in cell and developmental biology
Avec: Ilaria Parenti , Elsa Leitão , Alma Kuechler , Laurent Villard , Cyril Goizet , Cécile Courdier , Allan Bayat , Alessandra Rossi , Sophie Julia , Ange-Line Bruel , Frédéric Tran Mau-Them , Sophie Nambot , Daphné Lehalle , Marjolaine Willems , James Lespinasse , Jamal Ghoumid , Roseline Caumes , Thomas Smol , Salima El Chehadeh , Elise Schaefer , Marie-Thérèse Abi-Warde , Boris Keren , Alexandra Afenjar , Anne-Claude Tabet , Jonathan Levy , Anna Maruani , Ángel Aledo-Serrano , Waltraud Garming , Clara Milleret-Pignot , Anna Chassevent , Marije Koopmans , Nienke E Verbeek , Richard Person , Rebecca Belles , Gary Bellus , Bonnie A Salbert , Frank J Kaiser , Laure Mazzola , Philippe Convers , Laurine Perrin , Amélie Piton , Gert Wiegand , Andrea Accogli , Francesco Brancati , Fabio Benfenati , Nicolas Chatron , David Lewis-Smith , Rhys H Thomas , Federico Zara , Pasquale Striano , Christel Depienne

SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

European journal of neurology
Avec: Nicolas Pons , Gorka Fernández-Eulate , Antoine Pegat , Marie Théaudin , Régis Guieu , Paolo Ripellino , Manon Devedjian , Patrick Mace , Marion Masingue , Sarah Léonard-Louis , Philipe Petiot , Pauline Roche , Emilien Bernard , Françoise Bouhour , Jean-Marc Good , Annie Verschueren , Aude-Marie Grapperon , Emmanuelle Salort , Anaïs Grosset , Jean-Baptiste Chanson , Aleksandra Nadaj-Pakleza , Anne-Laure Bédat-Millet , Ariane Choumert , Anne Barnier , Ghassen Hamdi , Gaëtan Lesca , Fabienne Prieur , Arnaud Bruneel , Philippe Latour , Tanya Stojkovic , Shahram Attarian , Nathalie Bonello-Palot

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Allan Bayat , Zhenjiang Liu , Sheng Luo , Christina D Fenger , Anne F Højte , Bertrand Isidor , Benjamin Cogne , Austin Larson , Caterina Zanus , Flavio Faletra , Boris Keren , Luciana Musante , Isabelle Gourfinkel-An , Charles Perrine , Caroline Demily , Gaeton Lesca , Weiping Liao , Dejian Ren

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Epilepsia open
Avec: Mariagrazia Talarico , Francesco Fortunato , Audrey Labalme , Louis Januel , Nicolas Chatron , Damien Sanlaville , Ilaria Sammarra , Monica Gagliardi , Radha Procopio , Paola Valentino , Grazia Annesi , Antonio Gambardella

Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.

European journal of medical genetics
Avec: M Tusseau , M Eyries , N Chatron , F Coulet , A Guichet , E Colin , B Demeer , H Maillard , J Thevenon , C Lavigne , V Saillour , C Paris , J M De Sainte Agathe , M Pujalte , A Guilhem , S Dupuis-Girod , G Lesca

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Nature communications
Avec: Christy W LaFlamme , Cassandra Rastin , Soham Sengupta , Helen E Pennington , Sophie J Russ-Hall , Amy L Schneider , Emily S Bonkowski , Edith P Almanza Fuerte , Talia J Allan , Miranda Perez-Galey Zalusky , Joy Goffena , Sophia B Gibson , Denis M Nyaga , Nico Lieffering , Malavika Hebbar , Emily V Walker , Daniel Darnell , Scott R Olsen , Pandurang Kolekar , Mohamed Nadhir Djekidel , Wojciech Rosikiewicz , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Raissa Relator , Dorit Lev , Tally Lerman-Sagie , Kristen L Park , Marielle Alders , Gerarda Cappuccio , Nicolas Chatron , Leigh Demain , David Genevieve , Tony Roscioli , Damien Sanlaville , Matthew L Tedder , Sachin Gupta , Elizabeth A Jones , Monika Weisz-Hubshman , Shamika Ketkar , Hongzheng Dai , Kim C Worley , Jill A Rosenfeld , Hsiao-Tuan Chao , Auteur inconnu , Geoffrey Neale , Gemma L Carvill , Auteur inconnu , Zhaoming Wang , Samuel F Berkovic , Lynette G Sadleir , Danny E Miller , Ingrid E Scheffer , Bekim Sadikovic , Heather C Mefford

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Neurology
Avec: Eleni Panagiotakaki , Diane Doummar , Erika Nogue , Nicolas Nagot , Florence Riant , Sophie Nicole , Charlene Delaygue , Marie Anne Barthez , Marie Cécile Nassogne , Anne Dusser , Louis Vallée , Thierry Billette , Marie Bourgeois , Christine Ioos , Cyril Gitiaux , Cécile Laroche , Mathieu Milh , Vincent Des Portes , Alexis Arzimanoglou , Agathe Roubertie , Auteur inconnu

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Molecular autism
Avec: Hyung-Goo Kim , Jill A Rosenfeld , Daryl A Scott , Gerard Bénédicte , Jonathan D Labonne , Jason Brown , Marianne McGuire , Sonal Mahida , Sakkubai Naidu , Jacqueline Gutierrez , Vincent des Portes , Ange-Line Bruel , Arthur Sorlin , Fan Xia , Yline Capri , Eric Muller , Dianalee McKnight , Erin Torti , Franz Rüschendorf , Oliver Hummel , Zeyaul Islam , Prasanna R Kolatkar , Lawrence C Layman , Duchwan Ryu , Il-Keun Kong , Suneeta Madan-Khetarpal , Cheol-Hee Kim

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Epilepsia
Avec: Julien Denis , Nathalie Villeneuve , Pierre Cacciagli , Cecile Mignon-Ravix , Caroline Lacoste , Jeremie Lefranc , Sylvia Napuri , Lena Damaj , Frederic Villega , Jean-Michel Pedespan , Sebastien Moutton , Cyril Mignot , Diane Doummar , Laurence Lion-François , Svetlana Gataullina , Olivier Dulac , Melanie Martin , Sophie Gueden , Sophie Julia , Claude Cances , Hubert Journel , Cecilia Altuzarra , Bruria Ben Zeev , Alexandra Afenjar , Magalie Barth , Laurent Villard , Mathieu Milh

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

Brain : a journal of neurology
Avec: Wenshu XiangWei , Varun Kannan , Yuchen Xu , Gabrielle J Kosobucki , Anthony J Schulien , Hirofumi Kusumoto , Christelle Moufawad El Achkar , Subhrajit Bhattacharya , Sylvie Nguyen , Katherine L Helbig , Jean-Marie Cuisset , Christina Dühring Fenger , Dragan Marjanovic , Elisabeth Schuler , Ye Wu , Xinhua Bao , Yuehua Zhang , Nina Dirkx , An-Sofie Schoonjans , Steffen Syrbe , Scott J Myers , Annapurna Poduri , Elias Aizenman , Stephen F Traynelis , Johannes R Lemke , Hongjie Yuan , Yuwu Jiang

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Human mutation
Avec: Claire Bar , Giulia Barcia , Mélanie Jennesson , Gwenaël Le Guyader , Amy Schneider , Cyril Mignot , Delphine Breuillard , Martino Montomoli , Boris Keren , Diane Doummar , Thierry Billette de Villemeur , Alexandra Afenjar , Isabelle Marey , Marion Gerard , Hervé Isnard , Alice Poisson , Sophie Dupont , Patrick Berquin , Pierre Meyer , David Genevieve , Anne De Saint Martin , Salima El Chehadeh , Jamel Chelly , Agnès Guët , Emmanuel Scalais , Nathalie Dorison , Candace T Myers , Heather C Mefford , Katherine B Howell , Carla Marini , Jeremy L Freeman , Anca Nica , Gaetano Terrone , Tayeb Sekhara , Anne-Sophie Lebre , Sylvie Odent , Lynette G Sadleir , Arnold Munnich , Renzo Guerrini , Ingrid E Scheffer , Edor Kabashi , Rima Nabbout

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Human mutation
Avec: Nicolas Chatron , Kevin Cassinari , Olivier Quenez , Stéphanie Baert-Desurmont , Claire Bardel , Marie-Pierre Buisine , Eduardo Calpena , Yline Capri , Jordi Corominas Galbany , Flavie Diguet , Patrick Edery , Bertrand Isidor , Audrey Labalme , Cedric Le Caignec , Jonathan Lévy , François Lecoquierre , Pierre Lindenbaum , Olivier Pichon , Pierre-Antoine Rollat-Farnier , Thomas Simonet , Pascale Saugier-Veber , Anne-Claude Tabet , Annick Toutain , Andrew O M Wilkie , Damien Sanlaville , Gaël Nicolas , Caroline Schluth-Bolard

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Journal of medical genetics
Avec: Laïla Allach El Khattabi , Solveig Heide , Jean-Hubert Caberg , Joris Andrieux , Martine Doco Fenzy , Caroline Vincent-Delorme , Patrick Callier , Sandra Chantot-Bastaraud , Alexandra Afenjar , Odile Boute-Benejean , Marie Pierre Cordier , Laurence Faivre , Christine Francannet , Marion Gerard , Alice Goldenberg , Alice Masurel-Paulet , Anne-Laure Mosca-Boidron , Nathalie Marle , Anne Moncla , Nathalie Le Meur , Michèle Mathieu-Dramard , Ghislaine Plessis , Massimiliano Rossi , Patrick Edery , Andrée Delahaye-Duriez , Loïc De Pontual , Anne Claude Tabet , Aziza Lebbar , Lesley Suiro , Christine Ioos , Abdelhafid Natiq , Siham Chafai Elalaoui , Chantal Missirian , Aline Receveur , Caroline François-Fiquet , Pascal Garnier , Catherine Yardin , Cécile Laroche , Philippe Vago , Damien Sanlaville , Jean Michel Dupont , Brigitte Benzacken , Eva Pipiras

The landscape of epilepsy-related GATOR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sara Baldassari , Fabienne Picard , Nienke E Verbeek , Marjan van Kempen , Eva H Brilstra , Valerio Conti , Renzo Guerrini , Francesca Bisulli , Laura Licchetta , Tommaso Pippucci , Paolo Tinuper , Edouard Hirsch , Anne de Saint Martin , Jamel Chelly , Gabrielle Rudolf , Mathilde Chipaux , Sarah Ferrand-Sorbets , Georg Dorfmüller , Sanjay Sisodiya , Simona Balestrini , Natasha Schoeler , Laura Hernandez-Hernandez , S Krithika , Renske Oegema , Eveline Hagebeuk , Boudewijn Gunning , Charles Deckers , Bianca Berghuis , Ilse Wegner , Erik Niks , Floor E Jansen , Kees Braun , Daniëlle de Jong , Guido Rubboli , Inga Talvik , Valentin Sander , Peter Uldall , Marie-Line Jacquemont , Caroline Nava , Eric Leguern , Sophie Julia , Antonio Gambardella , Giuseppe d'Orsi , Giovanni Crichiutti , Laurence Faivre , Veronique Darmency , Barbora Benova , Pavel Krsek , Arnaud Biraben , Anne-Sophie Lebre , Mélanie Jennesson , Shifteh Sattar , Cécile Marchal , Douglas R Nordli , Kristin Lindstrom , Pasquale Striano , Lysa Boissé Lomax , Courtney Kiss , Fabrice Bartolomei , Anne Fabienne Lepine , An-Sofie Schoonjans , Katrien Stouffs , Anna Jansen , Eleni Panagiotakaki , Brigitte Ricard-Mousnier , Julien Thevenon , Julitta de Bellescize , Hélène Catenoix , Thomas Dorn , Martin Zenker , Karen Müller-Schlüter , Christian Brandt , Ilona Krey , Tilman Polster , Markus Wolff , Meral Balci , Kevin Rostasy , Guillaume Achaz , Pia Zacher , Thomas Becher , Thomas Cloppenborg , Christopher J Yuskaitis , Sarah Weckhuysen , Annapurna Poduri , Johannes R Lemke , Rikke S Møller , Stéphanie Baulac

Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.

Epileptic disorders : international epilepsy journal with videotape
Avec: Rikke S Møller , Gabrielle Rudolf , Edouard Hirsch , Helle Hjalgrim , Pierre Szepetowski

Patients with

Journal of medical genetics
Avec: Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia , Julien Buratti , Benjamin Cogné , Diane Doummar , Caroline Karsenty , Sandra Kenis , Eric Leguern , Caroline Nava , Mathilde Nizon , Amelie Piton , Stéphanie Valence , Laurent Villard , Sarah Weckhuysen , Boris Keren , Cyril Mignot

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Brain : a journal of neurology
Avec: Annalisa Vetro , Hang N Nielsen , Rikke Holm , Robert F Hevner , Elena Parrini , Zoe Powis , Rikke S Møller , Cristina Bellan , Alessandro Simonati , Gaétan Lesca , Katherine L Helbig , Elizabeth E Palmer , Davide Mei , Elisa Ballardini , Arie Van Haeringen , Steffen Syrbe , Vincenzo Leuzzi , Giovanni Cioni , Cynthia J Curry , Gregory Costain , Margherita Santucci , Karen Chong , Grazia M S Mancini , Jill Clayton-Smith , Stefania Bigoni , Ingrid E Scheffer , William B Dobyns , Bente Vilsen , Renzo Guerrini , Auteur inconnu

Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.

Pharmacological research
Avec: Maria Virginia Soldovieri , Elena Freri , Paolo Ambrosino , Ilaria Rivolta , Ilaria Mosca , Anna Binda , Carmen Murano , Francesca Ragona , Laura Canafoglia , Chiara Vannicola , Roberta Solazzi , Tiziana Granata , Barbara Castellotti , Giuliana Messina , Cinzia Gellera , Audrey Labalme , Jacopo C DiFrancesco , Maurizio Taglialatela

Refining Genotypes and Phenotypes in

International journal of molecular sciences
Avec: Jan H Döring , Julian Schröter , Jerome Jüngling , Saskia Biskup , Kerstin A Klotz , Thomas Bast , Tobias Dietel , G Christoph Korenke , Sophie Christoph , Heiko Brennenstuhl , Guido Rubboli , Rikke S Møller , Yves Chaix , Stefan Kölker , Georg F Hoffmann , Johannes R Lemke , Steffen Syrbe

Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.

Epilepsy research
Avec: Hassan Hosny , Mohamed El Tamawy , Riyad Gouider , Maged Abdel Naseer , Nirmeen Kishk , Mohamed S Abdel-Hamid , Ayman Ashmawi

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Nature communications
Avec: Nathan L Absalom , Vivian W Y Liao , Katrine M H Johannesen , Elena Gardella , Julia Jacobs , Zeynep Gokce-Samar , Alexis Arzimanoglou , Shimriet Zeidler , Pasquale Striano , Pierre Meyer , Ira Benkel-Herrenbrueck , Inger-Lise Mero , Jutta Rummel , Mary Chebib , Rikke S Møller , Philip K Ahring

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.

Journal of clinical immunology
Avec: Maud Tusseau , Ema Lovšin , Charlotte Samaille , Rémi Pescarmona , Anne-Laure Mathieu , Maria-Cristina Maggio , Velma Selmanović , Marusa Debeljak , Angelique Dachy , Gregor Novljan , Alexandre Janin , Louis Januel , Jean-Baptiste Gibier , Emilie Chopin , Isabelle Rouvet , David Goncalves , Nicole Fabien , Gillian I Rice , Gaétan Lesca , Audrey Labalme , Paola Romagnani , Thierry Walzer , Sebastien Viel , Magali Perret , Yanick J Crow , Tadej Avčin , Rolando Cimaz , Alexandre Belot

Molecular and clinical descriptions of patients with GABA

Epilepsia
Avec: Pierre-Yves Maillard , Sarah Baer , Élise Schaefer , Béatrice Desnous , Nathalie Villeneuve , Anne Lépine , Alexandre Fabre , Caroline Lacoste , Salima El Chehadeh , Amélie Piton , Louise Frances Porter , Caroline Perriard , Marie-Thérèse Abi Wardé , Marie-Aude Spitz , Vincent Laugel , Gaëtan Lesca , Audrey Putoux , Dorothée Ville , Cyril Mignot , Delphine Héron , Rima Nabbout , Giulia Barcia , Marlène Rio , Agathe Roubertie , Pierre Meyer , Véronique Paquis-Flucklinger , Olivier Patat , Jérémie Lefranc , Marion Gerard , Auteur inconnu , Julietta de Bellescize , Laurent Villard , Anne De Saint Martin , Mathieu Milh

Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.

Frontiers in pharmacology
Avec: Ilaria Mosca , Ilaria Rivolta , Audrey Labalme , Paolo Ambrosino , Barbara Castellotti , Cinzia Gellera , Tiziana Granata , Elena Freri , Anna Binda , Jacopo C DiFrancesco , Maria Virginia Soldovieri , Maurizio Taglialatela

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Yoeri Sleyp , Irene Valenzuela , Andrea Accogli , Katleen Ballon , Bruria Ben-Zeev , Samuel F Berkovic , Martin Broly , Patrick Callaerts , Raymond C Caylor , Perrine Charles , Nicolas Chatron , Lior Cohen , Antonietta Coppola , Dawn Cordeiro , Claudia Cuccurullo , Ivon Cuscó , Janette diMonda , Ramon Duran-Romaña , Nina Ekhilevitch , Paula Fernández-Alvarez , Christopher T Gordon , Bertrand Isidor , Boris Keren , Jarymke Maljaars , Saadet Mercimek-Andrews , Michelle M Morrow , Alison M Muir , Auteur inconnu , Frederic Rousseau , Vincenzo Salpietro , Ingrid E Scheffer , Rhonda E Schnur , Joost Schymkowitz , Erika Souche , Jean Steyaert , Elliot S Stolerman , Jaime Vengoechea , Dorothée Ville , Camerun Washington , Karin Weiss , Rinat Zaid , Lynette G Sadleir , Heather C Mefford , Hilde Peeters

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

European journal of medical genetics
Avec: Silvestre Cuinat , Chloé Quélin , Laurent Pasquier , Philippe Loget , Dominique Aussel , Sylvie Odent , Annie Laquerrière , Maia Proisy , Sylvie Mazoyer , Marion Delous , Patrick Edery , Nicolas Chatron , Audrey Putoux

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing

Cells
Avec: Yonika A Larasati , Gonzalo P Solis , Alexey Koval , Silja T Griffiths , Ragnhild Berentsen , Ingvild Aukrust , Nicolas Chatron , Dorothée Ville , Christian M Korff , Vladimir L Katanaev

GRM7-related disorder: Five additional patients from three independent families and review of the literature.

European journal of medical genetics
Avec: Louis Januel , Nicolas Chatron , Clotilde Rivier Ringenbach , Sara Cabet , Audrey Labalme , Yavuz Sahin , Hossein Darvish , Michael Kruer , Somayeh Bakhtiari , Damien Sanlaville , Jean Madeleine de Sainte Agathe ,

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Brain : a journal of neurology
Avec: Berardo Rinaldi , Allan Bayat , Linda G Zachariassen , Jia-Hui Sun , Yu-Han Ge , Dan Zhao , Kristine Bonde , Laura H Madsen , Ilham Abdimunim Ali Awad , Duygu Bagiran , Amal Sbeih , Syeda Maidah Shah , Shaymaa El-Sayed , Signe M Lyngby , Miriam G Pedersen , Charlotte Stenum-Berg , Louise Claudia Walker , Ilona Krey , Andrée Delahaye-Duriez , Lisa T Emrick , Krystal Sully , Chaya N Murali , Lindsay C Burrage , Julie Ana Plaud Gonzalez , Mered Parnes , Jennifer Friedman , Bertrand Isidor , Jérémie Lefranc , Sylvia Redon , Delphine Heron , Cyril Mignot , Boris Keren , Mélanie Fradin , Christele Dubourg , Sandra Mercier , Thomas Besnard , Benjamin Cogne , Wallid Deb , Clotilde Rivier , Donatella Milani , Maria Francesca Bedeschi , Claudia Di Napoli , Federico Grilli , Paola Marchisio , Suzanna Koudijs , Danielle Veenma , Emanuela Argilli , Sally Ann Lynch , Ping Yee Billie Au , Fernando Eduardo Ayala Valenzuela , Carolyn Brown , Diane Masser-Frye , Marilyn Jones , Leslie Patron Romero , Wenhui Laura Li , Erin Thorpe , Laura Hecher , Jessika Johannsen , Jonas Denecke , Vanda McNiven , Anna Szuto , Emma Wakeling , Vincent Cruz , Valerie Sency , Heng Wang , Juliette Piard , Fanny Kortüm , Theresia Herget , Tatjana Bierhals , Angelo Condell , Bruria Ben Zeev , Simranpreet Kaur , John Christodoulou , Amelie Piton , Christiane Zweier , Cornelia Kraus , Alessia Micalizzi , Marina Trivisano , Nicola Specchio , Rikke S Møller , Zeynep Tümer , Maria Musgaard , Benedicte Gerard , Johannes R Lemke , Yun Stone Shi , Anders S Kristensen

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Human genetics
Avec: Ariane Schmetz , Hermann-Josef Lüdecke , Harald Surowy , Sugirtahn Sivalingam , Ange-Line Bruel , Roseline Caumes , Perrine Charles , Nicolas Chatron , Krystyna Chrzanowska , Marta Codina-Solà , Cindy Colson , Ivon Cuscó , Anne-Sophie Denommé-Pichon , Patrick Edery , Laurence Faivre , Andrew Green , Solveig Heide , Tzung-Chien Hsieh , Alexander Hustinx , Lotte Kleinendorst , Cordula Knopp , Florian Kraft , Peter M Krawitz , Amaia Lasa-Aranzasti , Vanesa López-González , Julien Maraval , Cyril Mignot , Teresa Neuhann , Christian Netzer , Barbara Oehl-Jaschkowitz , Florence Petit , Christophe Philippe , Renata Posmyk , Audrey Putoux , André Reis , María José Sánchez-Soler , Julia Suh , Tinatin Tkemaladze , Frédéric Tran Mau Them , André Travessa , Laura Trujillano , Irene Valenzuela , Mieke M van Haelst , Georgia Vasileiou , Catherine Vincent-Delorme , Mona Walther , Pablo Verde , Nuria C Bramswig , Dagmar Wieczorek

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Epilepsia
Avec: Valentina Cetica , Tiziana Pisano , Dana Marafi , Laura Licchetta , Florence Riccardi , Davide Mei , Hon-Yin B Chung , Allan Bayat , Meena Balasubramanian , Daniel H Lowenstein , Milda Endzinienė , Maha Alotaibi , Nathalie Villeneuve , Julia Jacobs , Bertrand Isidor , Roberta Solazzi , Nicolette S den Hollander , Dragan Marjanovic , Christelle Rougeot-Jung , Julien Jung , Marion Lesieur-Sebellin , Andrea Accogli , Vincenzo Salpietro , Nebal W Saadi , Eleni Panagiotakaki , Thomas Foiadelli , Sylvia Redon , Meng-Han Tsai , Francesca Bisulli , Trine B Hammer , James R Lupski , Elena Parrini , Renzo Guerrini , Auteur inconnu

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

European journal of human genetics : EJHG
Avec: Eléonore Viora-Dupont , Françoise Robert , Aline Chassagne , Aurore Pélissier , Stéphanie Staraci , Damien Sanlaville , Patrick Edery , Audrey Putoux , Linda Pons , Amandine Cadenes , Amandine Baurand , Caroline Sawka , Geoffrey Bertolone , Myrtille Spetchian , Meriem Yousfi , Dominique Salvi , Elodie Gautier , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Frédéric Tran Mau-Them , Anne Faudet , Boris Keren , Audrey Labalme , Nicolas Chatron , Carine Abel , Sophie Dupuis-Girod , Alice Poisson , Julien Buratti , Cyril Mignot , Alexandra Afenjar , Sandra Whalen , Perrine Charles , Solveig Heide , Linda Mouthon , Sébastien Moutton , Arthur Sorlin , Sophie Nambot , Anne-Sophie Briffaut , Marie-Laure Asensio , Christophe Philippe , Christel Thauvin-Robinet , Delphine Héron , Massimiliano Rossi , Nicolas Meunier-Bellard , Marcela Gargiulo , Christine Peyron , Christine Binquet , Laurence Faivre

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Brain : a journal of neurology
Avec: Mehdi Benkirane , Marion Bonhomme , Heba Morsy , Stephanie L Safgren , Cecilia Marelli , Annabelle Chaussenot , Damian Smedley , Valentina Cipriani , Jean-Madeleine de Sainte-Agathe , Can Ding , Lise Larrieu , Letizia Vestito , Henri Margot , Francis Ramond , Anna Castrioto , David Baux , Jan Verheijen , Emna Sansa , Paola Giunti , Aline Haetty , Anne Bergougnoux , Morgane Pointaux , Olivier Ardouin , Charles Van Goethem , Marie-Claire Vincent , Marios Hadjivassiliou , Mireille Cossée , Tiphaine Rouaud , Oliver Bartsch , William D Freeman , Klaas J Wierenga , Eric W Klee , Auteur inconnu , Jana Vandrovcova , Henry Houlden , Anne Debant , Michel Koenig

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Epilepsia
Avec: Claudia Cuccurullo , Emanuele Cerulli Irelli , Lorenzo Ugga , Antonella Riva , Alessandra D'Amico , Sara Cabet , Leonilda Bilo , Federico Zara , Catrinel Iliescu , Diana Barca , France Fung , Katherine Helbig , Xilma Ortiz-Gonzalez , Helenius J Schelhaas , Marjolein H Willemsen , Inge van der Linden , Laura Canafoglia , Carolina Courage , Samuele Gommaraschi , Pedro Gonzalez-Alegre , Tanya Bardakjian , Steffen Syrbe , Elisabeth Schuler , Johannes R Lemke , Stella Vari , Gitte Roende , Mads Bak , Mahbulul Huq , Zoe Powis , Katrine M Johannesen , Trine Bjørg Hammer , Rikke S Møller , Rachel Rabin , John Pappas , Mary L Zupanc , Neda Zadeh , Julie Cohen , Sakkubai Naidu , Ilona Krey , Russell Saneto , Jenny Thies , Laura Licchetta , Paolo Tinuper , Francesca Bisulli , Raffaella Minardi , Allan Bayat , Nathalie Villeneuve , Florence Molinari , Hormos Salimi Dafsari , Birk Moller , Marie Le Roux , Clara Houdayer , Marilena Vecchi , Isabella Mammi , Elena Fiorini , Jacopo Proietti , Sofia Ferri , Gaetano Cantalupo , Domenica Immacolata Battaglia , Maria Luigia Gambardella , Ilaria Contaldo , Claudia Brogna , Marina Trivisano , Angela De Dominicis , Stefania Maria Bova , Elena Gardella , Pasquale Striano , Antonietta Coppola

Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.

Epileptic disorders : international epilepsy journal with videotape
Avec: Ann Mertens , Maria T Papadopoulou , Matthildi Athina Papathanasiou Terzi , Gaëtan Lesca , Mateusz Biela , Robert Smigiel , Eleni Panagiotakaki

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.

Epilepsia
Avec: Sara Matricardi , Paola De Liso , Elena Freri , Paola Costa , Barbara Castellotti , Stefania Magri , Cinzia Gellera , Tiziana Granata , Luciana Musante , Julie Oertel , Dana Craiu , Trine B Hammer , Rikke S Møller , Nina Barisic , Rami Abou Jamra , Tilman Polster , Federico Vigevano , Carla Marini

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Brain : a journal of neurology
Avec: Laura Cif , Diane Demailly , Jean-Pierre Lin , Katy E Barwick , Mario Sa , Lucia Abela , Sony Malhotra , Wui K Chong , Dora Steel , Alba Sanchis-Juan , Adeline Ngoh , Natalie Trump , Esther Meyer , Xavier Vasques , Julia Rankin , Meredith W Allain , Carolyn D Applegate , Sanaz Attaripour Isfahani , Julien Baleine , Bettina Balint , Jennifer A Bassetti , Emma L Baple , Kailash P Bhatia , Catherine Blanchet , Lydie Burglen , Gilles Cambonie , Emilie Chan Seng , Sandra Chantot Bastaraud , Fabienne Cyprien , Christine Coubes , Vincent d'Hardemare , Auteur inconnu , Asif Doja , Nathalie Dorison , Diane Doummar , Marisela E Dy-Hollins , Ellyn Farrelly , David R Fitzpatrick , Conor Fearon , Elizabeth L Fieg , Brent L Fogel , Eva B Forman , Rachel G Fox , Auteur inconnu , William A Gahl , Serena Galosi , Victoria Gonzalez , Tracey D Graves , Allison Gregory , Mark Hallett , Harutomo Hasegawa , Susan J Hayflick , Ada Hamosh , Marie Hully , Sandra Jansen , Suh Young Jeong , Joel B Krier , Sidney Krystal , Kishore R Kumar , Chloé Laurencin , Hane Lee , Laurence Lion François , Timothy Lynch , Neil Mahant , Julian A Martinez-Agosto , Christophe Milesi , Kelly A Mills , Michel Mondain , Hugo Morales-Briceno , Auteur inconnu , John R Ostergaard , Swasti Pal , Juan C Pallais , Frédérique Pavillard , Pierre-Francois Perrigault , Andrea K Petersen , Gustavo Polo , Gaetan Poulen , Tuula Rinne , Thomas Roujeau , Caleb Rogers , Agathe Roubertie , Michelle Sahagian , Elise Schaefer , Laila Selim , Richard Selway , Nutan Sharma , Rebecca Signer , Ariane G Soldatos , David A Stevenson , Fiona Stewart , Michel Tchan , Auteur inconnu , Ishwar C Verma , Bert B A de Vries , Jenny L Wilson , Derek A Wong , Raghda Zaitoun , Dolly Zhen , Anna Znaczko , Russell C Dale , Claudio M de Gusmão , Jennifer Friedman , Victor S C Fung , Mary D King , Shekeeb S Mohammad , Luis Rohena , Jeff L Waugh , Camilo Toro , F Lucy Raymond , Maya Topf , Philippe Coubes , Kathleen M Gorman , Manju A Kurian

Clinical delineation of SETBP1 haploinsufficiency disorder.

European journal of human genetics : EJHG
Avec: Nadieh A Jansen , Ruth O Braden , Siddharth Srivastava , Erin F Otness , Massimiliano Rossi , Mathilde Nizon , Raphael A Bernier , Chloé Quelin , Arie van Haeringen , Tjitske Kleefstra , Maggie M K Wong , Sandra Whalen , Simon E Fisher , Angela T Morgan , Bregje W van Bon

Autism and developmental disability caused by KCNQ3 gain-of-function variants.

Annals of neurology
Avec: Tristan T Sands , Francesco Miceli , Anita E Beck , Lynette G Sadleir , Daniel K Arrington , Bitten Schönewolf-Greulich , Sébastien Moutton , Anna Lauritano , Piera Nappi , Maria Virginia Soldovieri , Ingrid E Scheffer , Heather C Mefford , Nicholas Stong , Erin L Heinzen , David B Goldstein , Ana Grijalvo Perez , Eric H Kossoff , Amber Stocco , Jennifer A Sullivan , Vandana Shashi , Benedicte Gerard , Christine Francannet , Anne-Marie Bisgaard , Zeynep Tümer , Marjolaine Willems , François Rivier , Antonio Vitobello , Kavita Thakkar , Deepa S Rajan , A James Barkovich , Sarah Weckhuysen , Edward C Cooper , Maurizio Taglialatela , M Roberta Cilio

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Brain : a journal of neurology
Avec: Nicolas Chatron , Sara Cabet , Eudeline Alix , Annie Buenerd , Phillip Cox , Laurent Guibaud , Audrey Labalme , Peter Marks , Deborah Osio , Audrey Putoux , Damien Sanlaville , Alexandre Vasiljevic

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Pascal Sabouraud , Audrey Riquet , Marie-Aude Spitz , Kumaran Deiva , Sona Nevsimalova , Cyril Mignot , Gaëtan Lesca , Nathalie Bednarek , Diane Doummar , Christine Pietrement , Vincent Laugel

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

European journal of human genetics : EJHG
Avec: Aline Chassagne , Aurore Pélissier , Françoise Houdayer , Elodie Cretin , Elodie Gautier , Dominique Salvi , Sarah Kidri , Aurélie Godard , Christel Thauvin-Robinet , Alice Masurel , Daphné Lehalle , Nolwenn Jean-Marçais , Julien Thevenon , Audrey Putoux , Marie-Pierre Cordier , Sophie Dupuis-Girod , Marianne Till , Yannis Duffourd , Jean-Baptiste Rivière , Lorraine Joly , Christine Juif , Olivier Putois , Pierre Ancet , Anne-Sophie Lapointe , Paulette Morin , Patrick Edery , Massimiliano Rossi , Damien Sanlaville , Sophie Béjean , Christine Peyron , Laurence Faivre

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Brain : a journal of neurology
Avec: Vincent Strehlow , Henrike O Heyne , Danique R M Vlaskamp , Katie F M Marwick , Gabrielle Rudolf , Julitta de Bellescize , Saskia Biskup , Eva H Brilstra , Oebele F Brouwer , Petra M C Callenbach , Julia Hentschel , Edouard Hirsch , Peter C Kind , Cyril Mignot , Konrad Platzer , Patrick Rump , Paul A Skehel , David J A Wyllie , Giles E Hardingham , Conny M A van Ravenswaaij-Arts , Johannes R Lemke , Auteur inconnu

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cyril Mignot , Aoife C McMahon , Claire Bar , Philippe M Campeau , Claire Davidson , Julien Buratti , Caroline Nava , Marie-Line Jacquemont , Marilyn Tallot , Mathieu Milh , Patrick Edery , Pauline Marzin , Giulia Barcia , Christine Barnerias , Claude Besmond , Thierry Bienvenu , Ange-Line Bruel , Ledia Brunga , Berten Ceulemans , Christine Coubes , Ana G Cristancho , Fiona Cunningham , Marie-Bertille Dehouck , Elizabeth J Donner , Bénédicte Duban-Bedu , Christèle Dubourg , Elena Gardella , Julie Gauthier , David Geneviève , Stéphanie Gobin-Limballe , Ethan M Goldberg , Eveline Hagebeuk , Fadi F Hamdan , Miroslava Hančárová , Laurence Hubert , Christine Ioos , Shoji Ichikawa , Sandra Janssens , Hubert Journel , Anna Kaminska , Boris Keren , Marije Koopmans , Caroline Lacoste , Petra Laššuthová , Damien Lederer , Daphné Lehalle , Dragan Marjanovic , Julia Métreau , Jacques L Michaud , Kathryn Miller , Berge A Minassian , Joannella Morales , Marie-Laure Moutard , Arnold Munnich , Xilma R Ortiz-Gonzalez , Jean-Marc Pinard , Darina Prchalová , Audrey Putoux , Chloé Quelin , Alyssa R Rosen , Joelle Roume , Elsa Rossignol , Marleen E H Simon , Thomas Smol , Natasha Shur , Ivan Shelihan , Katalin Štěrbová , Emílie Vyhnálková , Catheline Vilain , Julie Soblet , Guillaume Smits , Samuel P Yang , Jasper J van der Smagt , Peter M van Hasselt , Marjan van Kempen , Sarah Weckhuysen , Ingo Helbig , Laurent Villard , Delphine Héron , Bobby Koeleman , Rikke S Møller , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Molecular genetics and metabolism reports
Avec: Marie Faoucher , Anne-Lise Poulat , Nicolas Chatron , Audrey Labalme , Caroline Schluth-Bolard , Marianne Till , Christine Vianey-Saban , Vincent Des Portes , Patrick Edery , Damien Sanlaville , Gaëtan Lesca , Cécile Acquaviva

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

European journal of medical genetics
Avec: Linda Pons , Isabelle Sabatier , Eudeline Alix , Marie Faoucher , Audrey Labalme , Damien Sanlaville ,

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Brain : a journal of neurology
Avec: Nicolas Chatron , Felicitas Becker , Heba Morsy , Miriam Schmidts , Katia Hardies , Beyhan Tuysuz , Sandra Roselli , Maryam Najafi , Dilek Uludag Alkaya , Farah Ashrafzadeh , Amira Nabil , Tarek Omar , Reza Maroofian , Ehsan Ghayoor Karimiani , Haytham Hussien , Fernando Kok , Luiza Ramos , Nilay Gunes , Kaya Bilguvar , Audrey Labalme , Eudeline Alix , Damien Sanlaville , Julitta de Bellescize , Anne-Lise Poulat , Auteur inconnu , Ali-Reza Moslemi , Holger Lerche , Patrick May , Sarah Weckhuysen , Homa Tajsharghi

Rare variants in the GABA

Molecular genetics & genomic medicine
Avec: Fenja Markus , Chloé Angelini , Aurelien Trimouille , Gabrielle Rudolf , Cyril Goizet , Eulalie Lasseaux , Benoit Arveiler , Marjon van Slegtenhorst , Alice S Brooks , Rami Abou Jamra , Georg-Christoph Korenke , John Neidhardt , Marta Owczarek-Lipska

Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.

Epileptic disorders : international epilepsy journal with videotape
Avec: Dorothée Ville , Audrey Labalme , Vincent des Portes , Alexis Arzimanoglou , Julitta de Bellescize

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.

Human genomics
Avec: Laurie-Anne Sapey-Triomphe , Julie Reversat , Gaëtan Lesca , Nicolas Chatron , Marina Bussa , Sylvie Mazoyer , Christina Schmitz , Sandrine Sonié , Patrick Edery

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.

European journal of medical genetics
Avec: Lucas W Gauthier , Nicolas Chatron , Sara Cabet , Audrey Labalme , Maryline Carneiro , Isabelle Poirot , Céline Delvert , Arnaud Gleizal , Audrey Putoux

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics
Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Antonio Vitobello , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

PIGN encephalopathy: Characterizing the epileptology.

Epilepsia
Avec: Allan Bayat , Guillem de Valles-Ibáñez , Manuela Pendziwiat , Alexej Knaus , Kerstin Alt , Elisa Biamino , Annette Bley , Sophie Calvert , Patrick Carney , Alfonso Caro-Llopis , Berten Ceulemans , Janice Cousin , Suzanne Davis , Vincent des Portes , Patrick Edery , Eleina England , Carlos Ferreira , Jeremy Freeman , Blanca Gener , Magali Gorce , Delphine Heron , Michael S Hildebrand , Aleksandra Jezela-Stanek , Pierre-Simon Jouk , Boris Keren , Katja Kloth , Gerhard Kluger , Marius Kuhn , Johannes R Lemke , Hong Li , Francisco Martinez , Caroline Maxton , Heather C Mefford , Giuseppe Merla , Hanna Mierzewska , Alison Muir , Sandra Monfort , Joost Nicolai , Jennifer Norman , Gina O'Grady , Barbara Oleksy , Carmen Orellana , Laura Elena Orec , Charlotte Peinhardt , Ewa Pronicka , Monica Rosello , Fernando Santos-Simarro , Eva Maria Christina Schwaibold , Alexander P A Stegmann , Constance T Stumpel , Elzbieta Szczepanik , Iwona Terczyńska , Julien Thevenon , Andreas Tzschach , Patrick Van Bogaert , Roberta Vittorini , Sonja Walsh , Sarah Weckhuysen , Barbara Weissman , Lynne Wolfe , Alexandre Reymond , Pasquelena De Nittis , Annapurna Poduri , Heather Olson , Pasquale Striano , Ingrid E Scheffer , Rikke S Møller , Lynette G Sadleir

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.

Communications biology
Avec: Géza Berecki , Katherine B Howell , Jacqueline Heighway , Nelson Olivier , Jill Rodda , Isabella Overmars , Danique R M Vlaskamp , Tyson L Ware , Simone Ardern-Holmes , Michael Alber , Pierangelo Veggiotti , Ingrid E Scheffer , Samuel F Berkovic , Markus Wolff , Steven Petrou

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brain : a journal of neurology
Avec: Andreas Brunklaus , Tobias Brünger , Tony Feng , Carmen Fons , Anni Lehikoinen , Eleni Panagiotakaki , Mihaela-Adela Vintan , Joseph Symonds , James Andrew , Alexis Arzimanoglou , Sarah Delima , Julie Gallois , Donncha Hanrahan , Stewart MacLeod , Dragan Marjanovic , Amy McTague , Noemi Nuñez-Enamorado , Eduardo Perez-Palma , M Scott Perry , Karen Pysden , Sophie J Russ-Hall , Ingrid E Scheffer , Krystal Sully , Steffen Syrbe , Ulvi Vaher , Murugan Velayutham , Julie Vogt , Shelly Weiss , Elaine Wirrell , Sameer M Zuberi , Dennis Lal , Rikke S Møller , Massimo Mantegazza , Sandrine Cestèle

Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.

Cerebellum (London, England)
Avec: Vincent Schneider , Gwendoline Dupont , Guillaume Madinier , Francis Ramond , Christel Thauvin-Robinet , Quentin Thomas

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of

Neurology
Avec: Hannah C Happ , Lynette G Sadleir , Matthew Zemel , Guillem de Valles-Ibáñez , Michael S Hildebrand , Allyn McConkie-Rosell , Marie McDonald , Halie May , Tristan Sands , Vimla Aggarwal , Christopher Elder , Timothy Feyma , Allan Bayat , Rikke S Møller , Christina D Fenger , Jens Erik Klint Nielsen , Anita N Datta , Kathleen M Gorman , Mary D King , Natalia D Linhares , Barbara K Burton , Andrea Paras , Sian Ellard , Julia Rankin , Anju Shukla , Purvi Majethia , Rory J Olson , Karthik Muthusamy , Lisa A Schimmenti , Keith Starnes , Lucie Sedláčková , Katalin Štěrbová , Markéta Vlčková , Petra Laššuthová , Alena Jahodová , Brenda E Porter , Nathalie Couque , Estelle Colin , Clément Prouteau , Corinne Collet , Thomas Smol , Roseline Caumes , Fleur Vansenne , Francesca Bisulli , Laura Licchetta , Richard Person , Erin Torti , Kirsty McWalter , Richard Webster , Elizabeth E Gerard , Pierre Szepetowski , Ingrid E Scheffer , Heather C Mefford , Gemma L Carvill

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

European journal of medical genetics
Avec: Lionel Arnaud , Marie-Thérèse Abi Warde , Giulia Barcia , Julitta de Bellescize , Nicolas Chatron , Marie Faoucher , Anne de Saint Martin , Delphine Héron , Guillaume Jedraszak , Caroline Lacoste , Anne-Sophie Lèbre , Mélanie Jenneson-Lyver , Audrey Labalme , Eric Leguern , Cyril Mignot , Mathieu Milh , Rima Nabbout , Caroline Nava , Eleni Panagiotakaki , Amélie Piton , Elise Schaefer , Julien Thevenon , Laurent Villard , Dorothée Ville ,

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.

EBioMedicine
Avec: Johanna Krüger , Julian Schubert , Josua Kegele , Audrey Labalme , Miaomiao Mao , Jacqueline Heighway , Guiscard Seebohm , Pu Yan , Mahmoud Koko , Kezban Aslan-Kara , Hande Caglayan , Bernhard J Steinhoff , Yvonne G Weber , Pascale Keo-Kosal , Samuel F Berkovic , Michael S Hildebrand , Steven Petrou , Roland Krause , Patrick May , Snezana Maljevic , Holger Lerche

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Annals of neurology
Avec: Maria Cristina Cioclu , Ilaria Mosca , Paolo Ambrosino , Deborah Puzo , Allan Bayat , Saskia B Wortmann , Johannes Koch , Vincent Strehlow , Kentaro Shirai , Naomichi Matsumoto , Stephan J Sanders , Vincent Michaud , Marine Legendre , Antonella Riva , Pasquale Striano , Hiltrud Muhle , Manuela Pendziwiat , Giuseppe Donato Mangano , Rosaria Nardello , Auteur inconnu , Johannes R Lemke , Rikke S Møller , Maria Virginia Soldovieri , Guido Rubboli , Maurizio Taglialatela

Prenatal diagnosis of microcephaly with simplified gyral pattern: series of 8 cases.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Avec: S Cabet , A Putoux , G Lesca , A Lesage , M Massoud , L Guibaud , Auteur inconnu

Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.

Epilepsia open
Avec: Gianni Cutillo , Silvia Masnada , Dorothée Ville , Patrizia Accorsi , Lucio Giordano , Anna Pichiecchio , Marialuisa Valente , Paola Borrelli , Ottavia Eleonora Ferraro , Pierangelo Veggiotti

Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic

Neurology. Genetics
Avec: Victoire Leclert , Chloe Laurencin , Roxana Ameli , Marc Hermier , Anthime Flaus , Stephane Prange , Stephane Thobois

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Laura Castilla-Vallmanya , Kaja K Selmer , Clémantine Dimartino , Raquel Rabionet , Bernardo Blanco-Sánchez , Sandra Yang , Margot R F Reijnders , Antonie J van Essen , Myriam Oufadem , Magnus D Vigeland , Barbro Stadheim , Gunnar Houge , Helen Cox , Helen Kingston , Jill Clayton-Smith , Jeffrey W Innis , Maria Iascone , Anna Cereda , Sara Gabbiadini , Wendy K Chung , Victoria Sanders , Joel Charrow , Emily Bryant , John Millichap , Antonio Vitobello , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Audrey Labalme , Christelle Rougeot , Nicolas Chatron , Damien Sanlaville , Katherine M Christensen , Amelia Kirby , Raymond Lewandowski , Rachel Gannaway , Maha Aly , Anna Lehman , Lorne Clarke , Luitgard Graul-Neumann , Christiane Zweier , Davor Lessel , Bernarda Lozic , Ingvild Aukrust , Ryan Peretz , Robert Stratton , Thomas Smol , Anne Dieux-Coëslier , Joanna Meira , Elizabeth Wohler , Nara Sobreira , Erin M Beaver , Jennifer Heeley , Lauren C Briere , Frances A High , David A Sweetser , Melissa A Walker , Catherine E Keegan , Parul Jayakar , Marwan Shinawi , Wilhelmina S Kerstjens-Frederikse , Dawn L Earl , Victoria M Siu , Emma Reesor , Tony Yao , Robert A Hegele , Olena M Vaske , Shannon Rego , Auteur inconnu , Kevin A Shapiro , Brian Wong , Michael J Gambello , Marie McDonald , Danielle Karlowicz , Roberto Colombo , Alessandro Serretti , Lynn Pais , Anne O'Donnell-Luria , Alison Wray , Simon Sadedin , Belinda Chong , Tiong Y Tan , John Christodoulou , Susan M White , Anne Slavotinek , Deborah Barbouth , Dayna Morel Swols , Mélanie Parisot , Christine Bole-Feysot , Patrick Nitschké , Véronique Pingault , Arnold Munnich , Megan T Cho , Valérie Cormier-Daire , Susanna Balcells , Stanislas Lyonnet , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

Lessons learned from 40 novel PIGA patients and a review of the literature.

Epilepsia
Avec: Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Christel Depienne , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , Cécile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , Valérie Layet , Kim L McBride , Marije Meuwissen , Cyril Mignot , Martino Montomoli , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , Krzysztoł Szczałuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias Brünger , Ingo Helbig , Peter Krawitz , Rikke S Møller

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.

BMC medical genetics
Avec: Alice Poisson , Nicolas Chatron , Audrey Labalme , Pierre Fourneret , Dorothée Ville , Marie Laure Mathieu , Damien Sanlaville , Caroline Demily , Gaëtan Lesca

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

European journal of medical genetics
Avec: Tania Dery , Nicolas Chatron , Amerh Alqahtani , Michel Pugeat , Marianne Till , Patrick Edery , Damien Sanlaville , Caroline Schluth-Bolard , Marc Nicolino , Audrey Putoux

Réseau de co-auteurs

Nicolas Chatron 30 collaborations
Audrey Labalme 25 collaborations
Damien Sanlaville 24 collaborations
None None 19 collaborations
Rikke S Møller 18 collaborations
Audrey Putoux 15 collaborations
Patrick Edery 15 collaborations
Cyril Mignot 14 collaborations
Ingrid E Scheffer 11 collaborations
Laurence Faivre 11 collaborations
Massimiliano Rossi 10 collaborations
Boris Keren 10 collaborations
Gaëtan Lesca 10 collaborations
Sarah Weckhuysen 9 collaborations
Johannes R Lemke 9 collaborations
Renzo Guerrini 9 collaborations
Allan Bayat 9 collaborations
Laurent Villard 8 collaborations
Alexandra Afenjar 8 collaborations
Pasquale Striano 8 collaborations
Dorothée Ville 8 collaborations
Nathalie Villeneuve 7 collaborations
Thomas Smol 7 collaborations
Elena Gardella 7 collaborations
Mathieu Milh 6 collaborations
Sandra Whalen 6 collaborations
Sara Cabet 6 collaborations
Steffen Syrbe 6 collaborations
Guido Rubboli 6 collaborations
Ingo Helbig 6 collaborations
Bertrand Isidor 6 collaborations
Lynette G Sadleir 6 collaborations
Heather C Mefford 6 collaborations
Eleni Panagiotakaki 6 collaborations
Diane Doummar 6 collaborations
Julien Thevenon 5 collaborations
Antonio Vitobello 5 collaborations
Delphine Héron 5 collaborations
Caroline Schluth-Bolard 5 collaborations
Marianne Till 5 collaborations
Manuela Pendziwiat 5 collaborations
Carla Marini 5 collaborations
Katherine L Helbig 5 collaborations
Vincent des Portes 5 collaborations
Alexis Arzimanoglou 5 collaborations
Maria Virginia Soldovieri 5 collaborations
Maurizio Taglialatela 5 collaborations
Roseline Caumes 5 collaborations
Gabrielle Rudolf 5 collaborations
Dragan Marjanovic 5 collaborations
Ange-Line Bruel 5 collaborations
Giulia Barcia 5 collaborations
Caroline Nava 5 collaborations
Julitta de Bellescize 5 collaborations
Christel Thauvin-Robinet 4 collaborations
Solveig Heide 4 collaborations
David Genevieve 4 collaborations
Bekim Sadikovic 4 collaborations
Berten Ceulemans 4 collaborations
Linda Pons 4 collaborations
Caroline Demily 4 collaborations
Elise Schaefer 4 collaborations
Mathilde Nizon 4 collaborations
Pia Zacher 4 collaborations
Konrad Platzer 4 collaborations
Ilona Krey 4 collaborations
Marion Gerard 4 collaborations
Agathe Roubertie 4 collaborations
Annapurna Poduri 4 collaborations
Holger Lerche 4 collaborations
Edouard Hirsch 4 collaborations
Alice Poisson 4 collaborations
Michael S Hildebrand 4 collaborations
Paolo Ambrosino 4 collaborations
Ilaria Mosca 4 collaborations
Samuel F Berkovic 4 collaborations
Caroline Lacoste 4 collaborations
Rima Nabbout 4 collaborations
Francesca Bisulli 4 collaborations
Laura Licchetta 4 collaborations
Sylvie Mazoyer 3 collaborations
Marina Trivisano 3 collaborations
Maryline Carneiro 3 collaborations
Marco Tartaglia 3 collaborations
Jennifer Kerkhof 3 collaborations
Michael A Levy 3 collaborations
An-Sofie Schoonjans 3 collaborations
Pierre-Antoine Rollat-Farnier 3 collaborations
Yline Capri 3 collaborations
Christine Coubes 3 collaborations
Sophie Dupuis-Girod 3 collaborations
Brigitte Gilbert-Dussardier 3 collaborations
James Lespinasse 3 collaborations
Sébastien Moutton 3 collaborations
Sylvie Odent 3 collaborations
Annick Toutain 3 collaborations
Alain Verloes 3 collaborations
Anne-Claude Tabet 3 collaborations
Olivier Patat 3 collaborations
Vincenzo Salpietro 3 collaborations
Henry Houlden 3 collaborations
Reza Maroofian 3 collaborations
Marie McDonald 3 collaborations
Christina D Fenger 3 collaborations
Laura Canafoglia 3 collaborations
Pierangelo Veggiotti 3 collaborations
Federico Zara 3 collaborations
Katherine B Howell 3 collaborations
Cecilia Altuzarra 3 collaborations
Tobias Brünger 3 collaborations
Patrick May 3 collaborations
Dennis Lal 3 collaborations
Anne de Saint Martin 3 collaborations
Lionel Arnaud 3 collaborations
Anne-Lise Poulat 3 collaborations
Vincent Des Portes 3 collaborations
Haley McConkey 3 collaborations
Andrée Delahaye-Duriez 3 collaborations
Delphine Heron 3 collaborations
Marjolaine Willems 3 collaborations
Christian M Korff 3 collaborations
Jill A Rosenfeld 3 collaborations
Rami Abou Jamra 3 collaborations
Julia Rankin 3 collaborations
Anne-Sophie Denommé-Pichon 3 collaborations
Davide Mei 3 collaborations
Zeynep Tümer 3 collaborations
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Sophie Julia 3 collaborations
Daphné Lehalle 3 collaborations
Salima El Chehadeh 3 collaborations
Nienke E Verbeek 3 collaborations
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Christel Depienne 3 collaborations
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Louis Januel 3 collaborations
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Marion Delous 2 collaborations
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