Lynette G Sadleir

Affiliations
  • Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.

Publications (41)

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Translational psychiatry
Avec: Kristy L Kolc , Lynette G Sadleir , Christel Depienne , Carla Marini , Ingrid E Scheffer , Rikke S Møller , Marina Trivisano , Nicola Specchio , Duyen Pham , Raman Kumar , Rachel Roberts , Jozef Gecz

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 , Gaetan Lesca , 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

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.

Epilepsia open
Avec: Jennifer S Jeffrey , Janet Leathem , Chontelle King , Heather C Mefford , Kirsty Ross , Lynette G Sadleir

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers in neurology
Avec: Lauren E Bleakley , Ming S Soh , Richard D Bagnall , Lynette G Sadleir , Samuel Gooley , Christopher Semsarian , Ingrid E Scheffer , Samuel F Berkovic , Christopher A Reid

SUDEP risk and autonomic dysfunction in genetic epilepsies.

Autonomic neuroscience : basic & clinical
Avec: Ahmed N Sahly , Michael Shevell , Lynette G Sadleir , Kenneth A Myers

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 , Gaetan Lesca , 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

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Lynette G Sadleir , Kristy L Kolc , Chontelle King , Heather C Mefford , Russell C Dale , Jozef Gecz , Ingrid E Scheffer

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

Advances in experimental medicine and biology
Avec: Kristy L Kolc , Rikke S Møller , Lynette G Sadleir , Ingrid E Scheffer , Raman Kumar , Jozef Gecz

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nature communications
Avec: Mark A Corbett , Thessa Kroes , Liana Veneziano , Mark F Bennett , Rahel Florian , Amy L Schneider , Antonietta Coppola , Laura Licchetta , Silvana Franceschetti , Antonio Suppa , Aaron Wenger , Davide Mei , Manuela Pendziwiat , Sabine Kaya , Massimo Delledonne , Rachel Straussberg , Luciano Xumerle , Brigid Regan , Douglas Crompton , Anne-Fleur van Rootselaar , Anthony Correll , Rachael Catford , Francesca Bisulli , Shreyasee Chakraborty , Sara Baldassari , Paolo Tinuper , Kirston Barton , Shaun Carswell , Martin Smith , Alfredo Berardelli , Renee Carroll , Alison Gardner , Kathryn L Friend , Ilan Blatt , Michele Iacomino , Carlo Di Bonaventura , Salvatore Striano , Julien Buratti , Boris Keren , Caroline Nava , Sylvie Forlani , Gabrielle Rudolf , Edouard Hirsch , Eric Leguern , Pierre Labauge , Simona Balestrini , Josemir W Sander , Zaid Afawi , Ingo Helbig , Hiroyuki Ishiura , Shoji Tsuji , Sanjay M Sisodiya , Giorgio Casari , Lynette G Sadleir , Riaan van Coller , Marina A J Tijssen , Karl Martin Klein , Arn M J M van den Maagdenberg , Federico Zara , Renzo Guerrini , Samuel F Berkovic , Tommaso Pippucci , Laura Canafoglia , Melanie Bahlo , Pasquale Striano , Ingrid E Scheffer , Francesco Brancati , Christel Depienne , Jozef Gecz

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Annals of neurology
Avec: Rosemary Burgess , Shuyu Wang , Amy McTague , Katja E Boysen , Xiaoling Yang , Qi Zeng , Kenneth A Myers , Anne Rochtus , Marina Trivisano , Deepak Gill , Auteur inconnu , Lynette G Sadleir , Nicola Specchio , Renzo Guerrini , Carla Marini , Yue-Hua Zhang , Heather C Mefford , Manju A Kurian , Annapurna H Poduri , Ingrid E Scheffer

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.

Epilepsia open
Avec: Guillem de Valles-Ibáñez , Michael S Hildebrand , Melanie Bahlo , Chontelle King , Matthew Coleman , Timothy E Green , John Goldsmith , Suzanne Davis , Deepak Gill , Simone Mandelstam , Ingrid E Scheffer , Lynette G Sadleir

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.

Epilepsia
Avec: Alexandre N Datta , Nadia Bahi-Buisson , Thierry Bienvenu , Sarah E Buerki , Fiona Gardiner , J Helen Cross , Bénédicte Heron , Anna Kaminska , Christian M Korff , Anne Lepine , Gaetan Lesca , Amy McTague , Heather C Mefford , Cyrill Mignot , Matthieu Milh , Amélie Piton , Ronit M Pressler , Susanne Ruf , Lynette G Sadleir , Anne de Saint Martin , Koen Van Gassen , Nienke E Verbeek , Dorothée Ville , Nathalie Villeneuve , Pia Zacher , Ingrid E Scheffer , Johannes R Lemke

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

medRxiv : the preprint server for health sciences
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 , Miranda Galey , Joy Goffena , Sophia B Gibson , Talia J Allan , Denis M Nyaga , Nico Lieffering , Malavika Hebbar , Emily V Walker , Daniel Darnell , Scott R Olsen , Pandurang Kolekar , Nahdir 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 , Gaetan Lesca , Tony Roscioli , Damien Sanlaville , Matthew L Tedder , Monika Weisz Hubshman , Shamika Ketkar , Hongzheng Dai , Kim Carlyle 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

Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.

Neurology
Avec: Gemma Poke , James Stanley , Ingrid E Scheffer , Lynette G Sadleir

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.

Epilepsia
Avec: Danique R M Vlaskamp , Anne S Bassett , Joseph E Sullivan , Jennifer Robblee , Lynette G Sadleir , Ingrid E Scheffer , Danielle M Andrade

Contribution of rare genetic variants to drug response in absence epilepsy.

Epilepsy research
Avec: Kenneth A Myers , Mark F Bennett , Bronwyn E Grinton , Gabriel Dabscheck , Eunice K Chan , Luis E Bello-Espinosa , Lynette G Sadleir , Sabrina D'Alfonso , Amy L Schneider , John A Damiano , Michael S Hildebrand , Melanie Bahlo , Samuel F Berkovic , Jeffrey Buchhalter , Ingrid E Scheffer

Safety and Tolerability of Transdermal Cannabidiol Gel in Children With Developmental and Epileptic Encephalopathies: A Nonrandomized Controlled Trial.

JAMA network open
Avec: Ingrid E Scheffer , Joe Hulihan , John Messenheimer , Shayma Ali , Ngaire Keenan , Jim Griesser , Donna L Gutterman , Terri Sebree , Lynette G Sadleir

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.

EBioMedicine
Avec: Karen L Oliver , Colin A Ellis , Ingrid E Scheffer , Shiva Ganesan , Costin Leu , Lynette G Sadleir , Erin L Heinzen , Heather C Mefford , Andrew J Bass , Sarah W Curtis , Rebekah V Harris , Auteur inconnu , David C Whiteman , Ingo Helbig , Ruth Ottman , Michael P Epstein , Melanie Bahlo , Samuel F Berkovic

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.

Annals of neurology
Avec: Rebekah V Harris , Karen L Oliver , Piero Perucca , Pasquale Striano , Angelo Labate , Antonella Riva , Bronwyn E Grinton , Joshua Reid , Jessica Hutton , Marian Todaro , Terence J O'Brien , Patrick Kwan , Lynette G Sadleir , Saul A Mullen , Emanuela Dazzo , Douglas E Crompton , Ingrid E Scheffer , Melanie Bahlo , Carlo Nobile , Antonio Gambardella , Samuel F Berkovic

Loss of symmetric cell division of apical neural progenitors drives

medRxiv : the preprint server for health sciences
Avec: Emily Banks , Vincent Francis , Sheng-Jia Lin , Fares Kharfallah , Vladimir Fonov , Maxime Levesque , Chanshuai Han , Gopinath Kulasekaran , Marius Tuznik , Armin Bayati , Reem Al-Khater , Fowzan S Alkuraya , Loukas Argyriou , Meisam Babaei , Melanie Bahlo , Behnoosh Bakhshoodeh , Eileen Barr , Lauren Bartik , Mahmoud Bassiony , Miriam Bertrand , Dominique Braun , Rebecca Buchert , Mauro Budetta , Maxime Cadieux-Dion , Daniel Calame , Heidi Cope , Donna Cushing , Stephanie Efthymiou , Marwa A Elmaksoud , Huda G El Said , Tawfiq Froukh , Harinder K Gill , Joseph G Gleeson , Laura Gogoll , Elaine S-Y Goh , Vykuntaraju K Gowda , Tobias B Haack , Mais O Hashem , Stefan Hauser , Trevor L Hoffman , Jacob S Hogue , Akimoto Hosokawa , Henry Houlden , Kevin Huang , Stephanie Huynh , Ehsan G Karimiani , Silke Kaulfuß , G Christoph Korenke , Amy Kritzer , Hane Lee , James R Lupski , Elysa J Marco , Kirsty McWalter , Arakel Minassian , Berge A Minassian , David Murphy , Juanita Neira-Fresneda , Hope Northrup , Denis Nyaga , Barbara Oehl-Jaschkowitz , Matthew Osmond , Richard Person , Davut Pehlivan , Cassidy Petree , Lynette G Sadleir , Carol Saunders , Ludger Schoels , Vandana Shashi , Rebecca C Spillman , Varunvenkat M Srinivasan , Paria N Torbati , Tulay Tos , Auteur inconnu , Maha S Zaki , Dihong Zhou , Christiane Zweier , Jean-François Trempe , Thomas M Durcan , Ziv Gan-Or , Massimo Avoli , Cesar Alves , Guarav K Varshney , Reza Maroofian , David A Rudko , Peter S McPherson

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 , Gaetan Lesca , 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

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Nature communications
Avec: Emily Banks , Vincent Francis , Sheng-Jia Lin , Fares Kharfallah , Vladimir Fonov , Maxime Lévesque , Chanshuai Han , Gopinath Kulasekaran , Marius Tuznik , Armin Bayati , Reem Al-Khater , Fowzan S Alkuraya , Loukas Argyriou , Meisam Babaei , Melanie Bahlo , Behnoosh Bakhshoodeh , Eileen Barr , Lauren Bartik , Mahmoud Bassiony , Miriam Bertrand , Dominique Braun , Rebecca Buchert , Mauro Budetta , Maxime Cadieux-Dion , Daniel G Calame , Heidi Cope , Donna Cushing , Stephanie Efthymiou , Marwa Abd Elmaksoud , Huda G El Said , Tawfiq Froukh , Harinder K Gill , Joseph G Gleeson , Laura Gogoll , Elaine S-Y Goh , Vykuntaraju K Gowda , Tobias B Haack , Mais O Hashem , Stefan Hauser , Trevor L Hoffman , Jacob S Hogue , Akimoto Hosokawa , Henry Houlden , Kevin Huang , Stephanie Huynh , Ehsan G Karimiani , Silke Kaulfuß , G Christoph Korenke , Amy Kritzer , Hane Lee , James R Lupski , Elysa J Marco , Kirsty McWalter , Arakel Minassian , Berge A Minassian , David Murphy , Juanita Neira-Fresneda , Hope Northrup , Denis M Nyaga , Barbara Oehl-Jaschkowitz , Matthew Osmond , Richard Person , Davut Pehlivan , Cassidy Petree , Lynette G Sadleir , Carol Saunders , Ludger Schoels , Vandana Shashi , Rebecca C Spillmann , Varunvenkat M Srinivasan , Paria N Torbati , Tulay Tos , Auteur inconnu , Maha S Zaki , Dihong Zhou , Christiane Zweier , Jean-François Trempe , Thomas M Durcan , Ziv Gan-Or , Massimo Avoli , Cesar Alves , Gaurav K Varshney , Reza Maroofian , David A Rudko , Peter S McPherson

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

Annals of neurology
Avec: Tristan T Sands , Francesco Miceli , Gaetan Lesca , 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

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.

Stem cell research
Avec: Natascia Malerba , Patrizia Benzoni , Gabriella Maria Squeo , Raffaella Milanesi , Federica Giannetti , Lynette G Sadleir , Gemma Poke , Bartolomeo Augello , Anna Irma Croce , Andrea Barbuti , Giuseppe Merla

Efficacy of cannabinoids in paediatric epilepsy.

Developmental medicine and child neurology
Avec: Shayma Ali , Ingrid E Scheffer , Lynette G Sadleir

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

Human molecular genetics
Avec: Timothy E Green , Joshua E Motelow , Mark F Bennett , Zimeng Ye , Caitlin A Bennett , Nicole G Griffin , John A Damiano , Richard J Leventer , Jeremy L Freeman , A Simon Harvey , Paul J Lockhart , Lynette G Sadleir , Amber Boys , Ingrid E Scheffer , Heather Major , Benjamin W Darbro , Melanie Bahlo , David B Goldstein , John F Kerrigan , Erin L Heinzen , Samuel F Berkovic , Michael S Hildebrand

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 , Gaetan Lesca , Ingrid E Scheffer , Rikke S Møller , Lynette G Sadleir

SCN8A self-limited infantile epilepsy: Does epilepsy resolve?

Epilepsia
Avec: Emma Young , Rebekah Harris , Nico Lieffering , Guillem de Valles-Ibáñez , Denis Nyaga , Mark F Bennett , Michael S Hildebrand , Ingrid E Scheffer , Lynette G Sadleir

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 , Gaetan Lesca , Pierre Szepetowski , Ingrid E Scheffer , Heather C Mefford , Gemma L Carvill

Indications and prescribing patterns of antiseizure medications in children in New Zealand.

Developmental medicine and child neurology
Avec: Shayma Ali , James Stanley , Suzanne Davis , Ngaire Keenan , Ingrid E Scheffer , Lynette G Sadleir

Leveraging multiple approaches for detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: a case report.

Epilepsia open
Avec: Denis M Nyaga , Michael S Hildebrand , Guillem de Valles-Ibáñez , Ngaire F Keenan , Zimeng Ye , Christy W LaFlamme , Heather C Mefford , Mark F Bennett , Melanie Bahlo , Lynette G Sadleir

Fragile Females: Case Series of Epilepsy in Girls With

Pediatrics
Avec: Kenneth A Myers , Femke N G van 't Hof , Lynette G Sadleir , Geneviève Legault , Elisabeth Simard-Tremblay , David J Amor , Ingrid E Scheffer

The epileptology of GNB5 encephalopathy.

Epilepsia
Avec: Gemma Poke , Chontelle King , Alison Muir , Guillem de Valles-Ibáñez , Michele Germano , Carolina F Moura de Souza , Jasmine Fung , Brian Chung , Cheuk Wing Fung , Cyril Mignot , Adina Ilea , Boris Keren , Anne-Isabelle Vermersch , Suzanne Davis , Thorsten Stanley , Mahendranath Moharir , Peter Kannu , Zhuo Shao , Natascia Malerba , Giuseppe Merla , Heather C Mefford , Ingrid E Scheffer , Lynette G Sadleir

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.

Molecular psychiatry
Avec: Kristy L Kolc , Lynette G Sadleir , Ingrid E Scheffer , Atma Ivancevic , Rachel Roberts , Duyen H Pham , Jozef Gecz

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.

Human mutation
Avec: Gemma L Carvill , Katherine L Helbig , Candace T Myers , Marcello Scala , Robert Huether , Sara Lewis , Tyler N Kruer , Brandon S Guida , Somayeh Bakhtiari , Joy Sebe , Sha Tang , Heather Stickney , Sehribani Ulusoy Oktay , Ashwin A Bhandiwad , Keri Ramsey , Vinodh Narayanan , Timothy Feyma , Luis O Rohena , Andrea Accogli , Mariasavina Severino , Georgina Hollingsworth , Deepak Gill , Christel Depienne , Caroline Nava , Lynette G Sadleir , Paul A Caruso , Angela E Lin , Floor E Jansen , Bobby Koeleman , Eva Brilstra , Marjolein H Willemsen , Tjitske Kleefstra , Joaquim Sa , Marie-Laure Mathieu , Laurine Perrin , Gaetan Lesca , Pasquale Striano , Giorgio Casari , Ingrid E Scheffer , David Raible , Evelyn Sattlegger , Valeria Capra , Sergio Padilla-Lopez , Heather C Mefford , Michael C Kruer

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.

Epilepsia
Avec: Lynette G Sadleir , Guillem de Valles-Ibáñez , Chontelle King , Matthew Coleman , Stuart Mossman , Sarah Paterson , John Nguyen , Samuel F Berkovic , Saul Mullen , Melanie Bahlo , Michael S Hildebrand , Heather C Mefford , Ingrid E Scheffer

Epidemiology of Treated Epilepsy in New Zealand Children: A Focus on Ethnicity.

Neurology
Avec: Shayma Ali , James Stanley , Suzanne Davis , Ngaire Keenan , Ingrid Eileen Scheffer , Lynette Grant Sadleir

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Hannah Stamberger , Trine B Hammer , Elena Gardella , Danique R M Vlaskamp , Birgitte Bertelsen , Simone Mandelstam , Iris de Lange , Jing Zhang , Candace T Myers , Christina Fenger , Zaid Afawi , Edith P Almanza Fuerte , Danielle M Andrade , Yunus Balcik , Bruria Ben Zeev , Mark F Bennett , Samuel F Berkovic , Bertrand Isidor , Arjan Bouman , Eva Brilstra , Øyvind L Busk , Anita Cairns , Roseline Caumes , Nicolas Chatron , Russell C Dale , Christa de Geus , Patrick Edery , Deepak Gill , Jacob Bie Granild-Jensen , Lauren Gunderson , Boudewijn Gunning , Gali Heimer , Johan R Helle , Michael S Hildebrand , Georgie Hollingsworth , Volodymyr Kharytonov , Eric W Klee , Bobby P C Koeleman , David A Koolen , Christian Korff , Sébastien Küry , Gaetan Lesca , Dorit Lev , Richard J Leventer , Mark T Mackay , Erica L Macke , Meriel McEntagart , Shekeeb S Mohammad , Pauline Monin , Martino Montomoli , Eva Morava , Sebastien Moutton , Alison M Muir , Elena Parrini , Peter Procopis , Emmanuelle Ranza , Laura Reed , Philipp S Reif , Felix Rosenow , Massimiliano Rossi , Lynette G Sadleir , Tara Sadoway , Helenius J Schelhaas , Amy L Schneider , Krati Shah , Ruth Shalev , Sanjay M Sisodiya , Thomas Smol , Connie T R M Stumpel , Kyra Stuurman , Joseph D Symonds , Frederic Tran Mau-Them , Nienke Verbeek , Judith S Verhoeven , Geoffrey Wallace , Keren Yosovich , Yuri A Zarate , Ayelet Zerem , Sameer M Zuberi , Renzo Guerrini , Heather C Mefford , Chirag Patel , Yue-Hua Zhang , Rikke S Møller , Ingrid E Scheffer

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Antonio Vitobello , Laurence Faivre , Siddharth Banka , Bader Alhaddad , Reza Asadollahi , Jessica Becker , Tatjana Bierhals , Kathleen E Brown , Ange-Line Bruel , Theresa Brunet , Maryline Carneiro , Kirsten Cremer , Robert Day , Anne-Sophie Denommé-Pichon , Dave A Dyment , Hartmut Engels , Rachel Fisher , Elaine S Goh , M J Hajianpour , Lucia Ribeiro Machado Haertel , Nadine Hauer , Maja Hempel , Theresia Herget , Jessika Johannsen , Cornelia Kraus , Gwenaël Le Guyader , Gaetan Lesca , Frédéric Tran Mau-Them , John Henry McDermott , Kirsty McWalter , Pierre Meyer , Katrin Õunap , Bernt Popp , Tiia Reimand , Korbinian M Riedhammer , Martina Russo , Lynette G Sadleir , Margarita Saenz , Manuel Schiff , Elisabeth Schuler , Steffen Syrbe , Amelie Theresa Van der Ven , Alain Verloes , Marjolaine Willems , Christiane Zweier , Katharina Steindl , Markus Zweier , Anita Rauch

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Epilepsia
Avec: Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson , Gwenaël Le Guyader , Gaetan Lesca , Cyril Mignot , Martino Montomoli , Elena Parrini , Hervé Isnard , Anne Rolland , Boris Keren , Alexandra Afenjar , Nathalie Dorison , Lynette G Sadleir , Delphine Breuillard , Raphael Levy , Marlène Rio , Sophie Dupont , Susanna Negrin , Alberto Danieli , Emmanuel Scalais , Anne De Saint Martin , Salima El Chehadeh , Jamel Chelly , Alice Poisson , Anne-Sophie Lebre , Anca Nica , Sylvie Odent , Tayeb Sekhara , Vesna Brankovic , Alice Goldenberg , Pascal Vrielynck , Damien Lederer , Hélène Maurey , Gaetano Terrone , Claude Besmond , Laurence Hubert , Patrick Berquin , Thierry Billette de Villemeur , Bertrand Isidor , Jeremy L Freeman , Heather C Mefford , Candace T Myers , Katherine B Howell , Andrés Rodríguez-Sacristán Cascajo , Pierre Meyer , David Genevieve , Agnès Guët , Diane Doummar , Julien Durigneux , Marieke F van Dooren , Marie Claire Y de Wit , Marion Gerard , Isabelle Marey , Arnold Munnich , Renzo Guerrini , Ingrid E Scheffer , Edor Kabashi , Rima Nabbout

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Annals of neurology
Avec: Sindhu Viswanathan , Karen L Oliver , Brigid M Regan , Amy L Schneider , Candace T Myers , Michele G Mehaffey , Amy J LaCroix , Jayne Antony , Richard Webster , Michael Cardamone , Gopinath M Subramanian , Annie T G Chiu , Eugenia Roza , Raluca I Teleanu , Stephen Malone , Richard J Leventer , Deepak Gill , Samuel F Berkovic , Michael S Hildebrand , Beatrice S Goad , Katherine B Howell , Joseph D Symonds , Andreas Brunklaus , Lynette G Sadleir , Sameer M Zuberi , Heather C Mefford , Ingrid E Scheffer

Réseau de co-auteurs

Ingrid E Scheffer 33 collaborations
Heather C Mefford 19 collaborations
Gaetan Lesca 12 collaborations
Samuel F Berkovic 12 collaborations
Melanie Bahlo 10 collaborations
Michael S Hildebrand 10 collaborations
None None 9 collaborations
Guillem de Valles-Ibáñez 7 collaborations
Boris Keren 6 collaborations
Mark F Bennett 6 collaborations
Amy L Schneider 6 collaborations
Rikke S Møller 5 collaborations
Jozef Gecz 5 collaborations
Candace T Myers 5 collaborations
Renzo Guerrini 5 collaborations
Chontelle King 5 collaborations
Deepak Gill 5 collaborations
Suzanne Davis 5 collaborations
Kristy L Kolc 4 collaborations
David Genevieve 4 collaborations
Kenneth A Myers 4 collaborations
Nicolas Chatron 4 collaborations
Pasquale Striano 4 collaborations
Denis M Nyaga 4 collaborations
Gemma L Carvill 4 collaborations
Shayma Ali 4 collaborations
Kirsty McWalter 4 collaborations
Christel Depienne 3 collaborations
Carla Marini 3 collaborations
Gwenaël Le Guyader 3 collaborations
Cyril Mignot 3 collaborations
Martino Montomoli 3 collaborations
Pierre Meyer 3 collaborations
Katherine B Howell 3 collaborations
Jeremy L Freeman 3 collaborations
Bertrand Isidor 3 collaborations
Christy W LaFlamme 3 collaborations
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Dorit Lev 3 collaborations
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