Matthieu Milh

Affiliations
  • Aix-Marseille Université, Marseille, France.

Publications (55)

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 , Gaetan Lesca , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

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 , Gaetan Lesca

Clinical and Neurophysiologic Phenotypes in Neonates With

Neurology
Avec: Evelina Carapancea , Marie-Coralie Cornet , Mathieu Milh , Lucrezia De Cosmo , Eric J Huang , Tiziana Granata , Pasquale Striano , Berten Ceulemans , Anja Stein , Deborah Morris-Rosendahl , Greta Conti , Nipa Mitra , F Lucy Raymond , David H Rowitch , Roberta Solazzi , Fabiana Vercellino , Paola De Liso , Gianluca D'Onofrio , Clementina Boniver , Olivier Danhaive , Katherine Carkeek , Vincenzo Salpietro , Sarah Weckhuysen , Marny Fedrigo , Annalisa Angelini , Barbara Castellotti , Damien Lederer , Valerie Benoit , Federico Raviglione , Renzo Guerrini , Robertino Dilena , Maria Roberta Cilio

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Nature communications
Avec: Katie L Ayers , Stefanie Eggers , Ben N Rollo , Katherine R Smith , Nadia M Davidson , Nicole A Siddall , Liang Zhao , Josephine Bowles , Karin Weiss , Ginevra Zanni , Lydie Burglen , Shay Ben-Shachar , Jenny Rosensaft , Annick Raas-Rothschild , Anne Jørgensen , Ralf B Schittenhelm , Cheng Huang , Gorjana Robevska , Jocelyn van den Bergen , Franca Casagranda , Justyna Cyza , Svenja Pachernegg , David K Wright , Melanie Bahlo , Alicia Oshlack , Terrence J O'Brien , Patrick Kwan , Peter Koopman , Gary R Hime , Nadine Girard , Chen Hoffmann , Yuval Shilon , Amnon Zung , Enrico Bertini , Mathieu Milh , Bochra Ben Rhouma , Neila Belguith , Anu Bashamboo , Kenneth McElreavey , Ehud Banne , Naomi Weintrob , Bruria BenZeev , Andrew H Sinclair

Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study.

Health expectations : an international journal of public participation in health care and health policy
Avec: Marie-Anastasie Aim , Marie-Christine Rousseau , Ilyes Hamouda , Any Beltran Anzola , Thierry Billette de Villemeur , Mathieu Milh , Kim Maincent , Katia Lind , Pascal Auquier , Karine Baumstarck , Lionel Dany

Transition from paediatric to adult care in adolescents with neurological diseases and handicap.

Revue neurologique
Avec: B Chabrol , M Milh

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Juliette Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti , Romina Romaniello , Melanie Fradin , Yline Capri , Delphine Héron , Marie-Christine Nougues , Caroline Nava , Oana Tarta Arsene , Debbie Shears , John Taylor , Alistair Pagnamenta , Jenny C Taylor , Yoshimi Sogawa , Diana Johnson , Helen Firth , Pradeep Vasudevan , Gabriela Jones , Marie-Ange Nguyen-Morel , Tiffany Busa , Agathe Roubertie , Myrthe van den Born , Elise Brischoux-Boucher , Michel Koenig , Cyril Mignot , Auteur inconnu , Usha Kini , Christophe Philippe

Correction: 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 , Gaetan Lesca , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Juliette Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti , Romina Romaniello , Melanie Fradin , Yline Capri , Delphine Héron , Marie-Christine Nougues , Caroline Nava , Oana Tarta Arsene , Debbie Shears , John Taylor , Alistair Pagnamenta , Jenny C Taylor , Yoshimi Sogawa , Diana Johnson , Helen Firth , Pradeep Vasudevan , Gabriela Jones , Marie-Ange Nguyen-Morel , Tiffany Busa , Agathe Roubertie , Myrthe van den Born , Elise Brischoux-Boucher , Michel Koenig , Cyril Mignot , Auteur inconnu , Usha Kini , Christophe Philippe

Phenotypic and Imaging Spectrum Associated With WDR45.

Pediatric neurology
Avec: Laura A Adang , Amy Pizzino , Alka Malhotra , Holly Dubbs , Catherine Williams , Omar Sherbini , Anna-Kaisa Anttonen , Gaetan Lesca , Tarja Linnankivi , Chloé Laurencin , Charles Perrine , Christian P Schaaf , Anne-Lise Poulat , Dorothee Ville , Tanner Hagelstrom , Denise L Perry , Ryan J Taft , Amy Goldstein , Arastoo Vossough , Ingo Helbig , Adeline Vanderver

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.

Brain sciences
Avec: Siddharth Srivastava , Erica L Macke , Lindsay C Swanson , David Coulter , Eric W Klee , Sureni V Mullegama , Yili Xie , Brendan C Lanpher , Emma C Bedoukian , Cara M Skraban , Laurent Villard , Mathieu Milh , Mary L O Leppert , Julie S Cohen

Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.

Prenatal diagnosis
Avec: Beatrice Desnous , Guillaume Carles , Florence Riccardi , Nathalie Stremler , Melissa Baravalle , Fedouah El-Louali , Benoit Testud , Mathieu Milh

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.

International journal of molecular sciences
Avec: Maude Vecten , Emmanuelle Pion , Marc Bartoli , Raul Juntas Morales , Damien Sternberg , John Rendu , Tanya Stojkovic , Cécile Acquaviva Bourdain , Corinne Métay , Isabelle Richard , Mathieu Cerino , Mathieu Milh , Emmanuelle Campana-Salort , Svetlana Gorokhova , Nicolas Levy , Xénia Latypova , Gisèle Bonne , Valérie Biancalana , François Petit , Annamaria Molon , Aurélien Perrin , Pascal Laforêt , Shahram Attarian , Martin Krahn , Mireille Cossée

Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Epilepsia
Avec: Marina Trivisano , Alessandro Ferretti , Elizabeth Bebin , Linda Huh , Gaetan Lesca , 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

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurology. Genetics
Avec: Giulia Barcia , Nicole Chemaly , Mathieu Kuchenbuch , Monika Eisermann , Stéphanie Gobin-Limballe , Viorica Ciorna , Alfons Macaya , Laetitia Lambert , Fanny Dubois , Diane Doummar , Thierry Billette de Villemeur , Nathalie Villeneuve , Marie-Anne Barthez , Caroline Nava , Nathalie Boddaert , Anna Kaminska , Nadia Bahi-Buisson , Mathieu Milh , Stéphane Auvin , Jean-Paul Bonnefont , Rima Nabbout

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Solveig Heide , Myrtille Spentchian , Stéphanie Valence , Julien Buratti , Corinne Mach , Elodie Lejeune , Valérie Olin , Marta Massimello , Daphné Lehalle , Linda Mouthon , Sandra Whalen , Anne Faudet , Cyril Mignot , Catherine Garel , Eleonore Blondiaux , Mathilde Lefebvre , Geneviève Quenum-Miraillet , Sandra Chantot-Bastaraud , Mathieu Milh , Florence Bretelle , Vincent des Portes , Laurent Guibaud , Audrey Putoux , Vassili Tsatsaris , Marta Spodenkiewic , Valérie Layet , Rodolphe Dard , Laurent Mandelbrot , Agnès Guet , Sébastien Moutton , Magali Gorce , Mathilde Nizon , Marie Vincent , Claire Beneteau , Marie-Amélie Rocchisanni , Alexandra Benachi , Julien Saada , Tania Attié-Bitach , Lucie Guilbaud , Paul Maurice , Stéphanie Friszer , Jean-Marie Jouannic , Thierry Billette de Villemeur , Marie-Laure Moutard , Boris Keren , Delphine Héron

Screening for depression in youth with epilepsy: Psychometric analysis of NDDI-E-Y and NDDI-E in a French population.

Epilepsy & behavior : E&B
Avec: Marine Viellard , Nathalie Villeneuve , Mathieu Milh , Anne Lépine , Jean-Arthur Micoulaud-Franchi , Aileen McGonigal

Can histologically normal epileptogenic zone share common electrophysiological phenotypes with focal cortical dysplasia? SEEG-based study in MRI-negative epileptic patients.

Journal of neurology
Avec: Stanislas Lagarde , Julia Scholly , Irina Popa , Maria Paola Valenti-Hirsch , Agnès Trebuchon , Aileen McGonigal , Mathieu Milh , Anke M Staack , Béatrice Lannes , Benoît Lhermitte , François Proust , Mustapha Benmekhbi , Didier Scavarda , Romain Carron , Dominique Figarella-Branger , Edouard Hirsch , Fabrice Bartolomei

Genetics of neonatal onset epilepsies: An overview.

Revue neurologique
Avec: M Milh , F Riccardi , J Denis

The repertoire of seizure onset patterns in human focal epilepsies: Determinants and prognostic values.

Epilepsia
Avec: Stanislas Lagarde , Sinziana Buzori , Agnès Trebuchon , Romain Carron , Didier Scavarda , Mathieu Milh , Aileen McGonigal , Fabrice Bartolomei

Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.

Epilepsia
Avec: Mathieu Kuchenbuch , Pascal Benquet , Anna Kaminska , Agathe Roubertie , Emilie Carme , Anne de Saint Martin , Edouard Hirsch , Fanny Dubois , Cécile Laroche , Giulia Barcia , Nicole Chemaly , Nathalie Villeneuve , Paul Sauleau , Julien Modolo , Fabrice Wendling , Rima Nabbout

Fluoxetine as adjunctive therapy in pediatric patients with refractory epilepsy: A retrospective analysis.

Epilepsy research
Avec: Julien Neveu , Nathalie Villeneuve , Mathieu Milh , Béatrice Desnous

Clinical characteristics of COVID-19 infection in polyhandicapped persons in France.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Avec: M-C Rousseau , M Hully , M Milh , D Juzeau , B Pollez , S Peudenier , N Bahi Buisson , V Gautheron , Auteur inconnu , B Chabrol , T Billette de Villemeur

The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Avec: M-V André , P Cacciagli , A Cano , L Vaugier , M Roussel , N Girard , B Chabrol , L Villard , M Milh

Overview of therapeutic options for epilepsy.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Avec: M Kuchenbuch , C Chiron , M Milh

A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.

Epilepsia
Avec: Mathieu Milh , Pierre Roubertoux , Najoua Biba , Julie Chavany , Adeline Spiga Ghata , Camille Fulachier , Stephan Christopher Collins , Christel Wagner , Jean-Christophe Roux , Binnaz Yalcin , Marie-Solenne Félix , Florence Molinari , Pierre-Pascal Lenck-Santini , Laurent Villard

Open-label study to investigate the safety and efficacy of adjunctive perampanel in pediatric patients (4 to <12 years) with inadequately controlled focal seizures or generalized tonic-clonic seizures.

Epilepsia
Avec: Andras Fogarasi , Robert Flamini , Mathieu Milh , Steven Phillips , Shinsaku Yoshitomi , Anna Patten , Takao Takase , Antonio Laurenza , Leock Y Ngo

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

Neurology
Avec: Eleni Panagiotakaki , Diane Doummar , Erika Nogue , Nicolas Nagot , Gaetan Lesca , 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

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 , Gaetan Lesca , Sophie Julia , Claude Cances , Hubert Journel , Cecilia Altuzarra , Bruria Ben Zeev , Alexandra Afenjar , Magalie Barth , Laurent Villard , Mathieu Milh

Diadenosine-Polyphosphate Analogue AppCH2ppA Suppresses Seizures by Enhancing Adenosine Signaling in the Cortex.

Cerebral cortex (New York, N.Y. : 1991)
Avec: Alexandre Pons-Bennaceur , Vera Tsintsadze , Thi-Thien Bui , Timur Tsintsadze , Marat Minlebaev , Mathieu Milh , Didier Scavarda , Rashid Giniatullin , Raisa Giniatullina , Sergey Shityakov , Michael Wright , Andrew D Miller , Natalia Lozovaya , Nail Burnashev

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Stéphanie Valence , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud , Elodie Lainey , Alexandra Afenjar , Marie-Anne Barthez , Nathalie Bednarek , Diane Doummar , Laurence Faivre , Cyril Goizet , Damien Haye , Bénédicte Heron , Isabelle Kemlin , Didier Lacombe , Mathieu Milh , Marie-Laure Moutard , Florence Riant , Stéphanie Robin , Agathe Roubertie , Pierre Sarda , Annick Toutain , Laurent Villard , Dorothée Ville , Thierry Billette de Villemeur , Diana Rodriguez , Lydie Burglen

Time-limited alterations in cortical activity of a knock-in mouse model of KCNQ2-related developmental and epileptic encephalopathy.

The Journal of physiology
Avec: Najoua Biba-Maazou , Hélène Becq , Emilie Pallesi-Pocachard , Stefania Sarno , Samuel Granjeaud , Aurélie Montheil , Marie Kurz , Laurent Villard , Mathieu Milh , Pierre-Pascal Lenck Santini , Laurent Aniksztejn

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

Before the first seizure: The developmental imprint of infant epilepsy on neurodevelopment.

Revue neurologique
Avec: M Milh

Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD).

Frontiers in pediatrics
Avec: Marien Lenoir , Thibault Beretti , Benoit Testud , Noémie Resseguier , Kim Gauthier , Virginie Fouilloux , Célia Gran , Florent Paoli , Fedoua El-Louali , Philippe Aldebert , Julie Blanc , Camille Soulatges , Sarab Al-Dybiat , Guillaume Carles , Chloe Wanert , William Rozalen , Stéphane Lebel , Sophie Arnaud , Dominique Santelli , Chloé Allary , Marianne Peyre , Isabelle Grandvuillemin , Clotilde Desroberts , Myriem Belghiti Alaoui , Farid Boubred , Fabrice Michel , Caroline Ovaert , Mathieu Milh , Clément François , Béatrice Desnous

Familial KCNQ2 mutation: a psychiatric perspective.

Psychiatric genetics
Avec: Anton Iftimovici , Angeline Charmet , Béatrice Desnous , Ana Ory , Richard Delorme , Charles Coutton , Françoise Devillard , Mathieu Milh , Anna Maruani

Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Blandine Dozieres-Puyravel , Hala Nasser , François-Xavier Mauvais , Anne De Saint Martin , Caroline Perriard , Chloé Di Meglio , Claude Cances , Caroline Hachon-LE Camus , Mathieu Milh , Stéphane Auvin

Phosphatidylserine enriched with polyunsaturated n-3 fatty acid supplementation for Attention-Deficit Hyperactivity Disorder (ADHD) in children & adolescents with epilepsy: a randomized placebo-controlled trial.

Epilepsia open
Avec: Sylvain Rheims , Vania Herbillon , Ségolène Gaillard , Catherine Mercier , Nathalie Villeuve , Frédéric Villéga , Claude Cances , Pierre Castelnau , Silvia Napuri , Anne de Saint-Martin , Stéphane Auvin , Sylvie N Guyen The Tich , Patrick Berquin , Julitta de Bellecize , Mathieu Milh , Pascal Roy , Alexis Arzimanoglou , Jacques Bodennec , Laurent Bezin , Behrouz Kassai , Auteur inconnu

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lettie E Rawlins , Reza Maroofian , Stuart J Cannon , Muhannad Daana , Mina Zamani , Shamsul Ghani , Joseph S Leslie , Nishanka Ubeyratna , Nasar Khan , Hamid Khan , Annarita Scardamaglia , Robin Cloarec , Shujaat Ali Khan , Muhammad Umair , Saeid Sadeghian , Hamid Galehdari , Almundher Al-Maawali , Adila Al-Kindi , Reza Azizimalamiri , Gholamreza Shariati , Faraz Ahmad , Amna Al-Futaisi , Pedro M Rodriguez Cruz , Ainara Salazar-Villacorta , Moustapha Ndiaye , Amadou G Diop , Alireza Sedaghat , Alihossein Saberi , Mohammad Hamid , Maha S Zaki , Barbara Vona , Daniel Owrang , Abdullah M Alhashem , Makram Obeid , Amjad Khan , Ahmad Beydoun , Marwan Najjar , Homa Tajsharghi , Giovanni Zifarelli , Peter Bauer , Wejdan S Hakami , Amal M Al Hashem , Rose-Mary N Boustany , Lydie Burglen , Shahryar Alavi , Adam C Gunning , Martina Owens , Ehsan G Karimiani , Joseph G Gleeson , Mathieu Milh , Somaya Salah , Jahangir Khan , Volker Haucke , Caroline F Wright , Lucy McGavin , Orly Elpeleg , Muhammad I Shabbir , Henry Houlden , Michael Ebner , Emma L Baple , Andrew H Crosby

Relationship between PET metabolism and SEEG epileptogenicity in focal lesional epilepsy.

European journal of nuclear medicine and molecular imaging
Avec: Stanislas Lagarde , Mohamed Boucekine , Aileen McGonigal , Romain Carron , Didier Scavarda , Agnès Trebuchon , Mathieu Milh , Laurent Boyer , Fabrice Bartolomei , Eric Guedj

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.

Epilepsia
Avec: Andreas Brunklaus , Juanjiangmeng Du , Felix Steckler , Ismael I Ghanty , Katrine M Johannesen , Christina Dühring Fenger , Stephanie Schorge , David Baez-Nieto , Hao-Ran Wang , Andrew Allen , Jen Q Pan , Holger Lerche , Henrike Heyne , Joseph D Symonds , Sameer M Zuberi , Stephan Sanders , Beth R Sheidley , Dana Craiu , Heather E Olson , Sarah Weckhuysen , Peter DeJonge , Ingo Helbig , Hilde Van Esch , Tiffany Busa , Bertrand Isidor , Christel Depienne , Annapurna Poduri , Arthur J Campbell , Jordane Dimidschstein , Rikke S Møller , Dennis Lal

Pediatric emergency room visits for neurological conditions: Description and use of pediatric neurologist advice.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Avec: F Albertini , V Bresson , S Tardieu , M Milh , B Chabrol

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 , 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

Real-life use of videos in pediatric epilepsy consultations.

Epilepsy & behavior : E&B
Avec: Blandine Dozières-Puyravel , Louis Dufour , Caroline Hachon Le Camus , Marie-Thérèse Abi Warde , Claude Cances , Nicole Chemaly , Marc Gibaud , Jérémie Lefranc , Mathieu Milh , Maximillien Perivier , Joseph Toulouse , Adeline Trauffler , Marie Vermelle , Hélène Maurey , Stéphane Auvin

Consensus statements on the information to deliver after a febrile seizure.

European journal of pediatrics
Avec: Anna Loussouarn , Anita Devlin , Thomas Bast , Grégoire Benoist , François Corrard , Helen Cross , Alessandro Ferretti , Fernando Garcia-Sala Viguer , Renzo Guerrini , Joerg Klepper , Thomas Meissner , Mathieu Milh , Violeta Poltorak , Umberto Raucci , Victoria San Antonio-Arce , Adrian Sie , Patricia Smeyers , Nicola Specchio , Alastair Sutcliffe , Adeline Trauffler , Blandine Dozières-Puyravel , Stéphane Auvin

Intellectual outcome from 1 to 5 years after epilepsy surgery in 81 children and adolescents: A longitudinal study.

Seizure
Avec: Virginie Laguitton , Béatrice Desnous , Anne Lépine , Aileen McGonigal , Julien Mancini , Géraldine Daquin , Nadine Girard , Didier Scavarda , Agnès Trébuchon , Mathieu Milh , Fabrice Bartolomei , Nathalie Villeneuve

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.

EBioMedicine
Avec: Francesco Miceli , Charissa Millevert , Maria Virginia Soldovieri , Ilaria Mosca , Paolo Ambrosino , Lidia Carotenuto , Dewi Schrader , Hyun Kyung Lee , James Riviello , William Hong , Sarah Risen , Lisa Emrick , Hitha Amin , Dorothée Ville , Patrick Edery , Julitta de Bellescize , Vincent Michaud , Julien Van-Gils , Cyril Goizet , Marjolein H Willemsen , Tjitske Kleefstra , Rikke S Møller , Allan Bayat , Orrin Devinsky , Tristan Sands , G Christoph Korenke , Gerhard Kluger , Heather C Mefford , Eva Brilstra , Gaetan Lesca , Mathieu Milh , Edward C Cooper , Maurizio Taglialatela , Sarah Weckhuysen

GluK2 Is a Target for Gene Therapy in Drug-Resistant Temporal Lobe Epilepsy.

Annals of neurology
Avec: Céline Boileau , Severine Deforges , Angélique Peret , Didier Scavarda , Fabrice Bartolomei , April Giles , Nicolas Partouche , Justine Gautron , Julio Viotti , Haley Janowitz , Guillaume Penchet , Cécile Marchal , Stanislas Lagarde , Agnès Trebuchon , Nathalie Villeneuve , Julie Rumi , Thomas Marissal , Roustem Khazipov , Ilgam Khalilov , Fanny Martineau , Marine Maréchal , Anne Lepine , Mathieu Milh , Dominique Figarella-Branger , Etienne Dougy , Soutsakhone Tong , Romain Appay , Stéphane Baudouin , Andrew Mercer , Jared B Smith , Olivier Danos , Richard Porter , Christophe Mulle , Valérie Crépel

Efficacy and tolerance of cannabidiol in the treatment of epilepsy in patients with Rett syndrome.

Epilepsia open
Avec: Béatrice Desnous , Thibault Beretti , Nathan Muller , Julien Neveu , Nathalie Villeneuve , Anne Lépine , Géraldine Daquin , Mathieu Milh

Further characterisation of

Journal of medical genetics
Avec: Mathilde Gras , Solveig Heide , Boris Keren , Stéphanie Valence , Catherine Garel , Sandra Whalen , Anna C Jansen , Kathelijn Keymolen , Katrien Stouffs , Mélanie Jennesson , Céline Poirsier , Gaetan Lesca , Christel Depienne , Caroline Nava , Agnès Rastetter , Aurore Curie , Laurence Cuisset , Vincent Des Portes , Mathieu Milh , Perrine Charles , Cyril Mignot , Delphine Héron

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Prenatal diagnosis
Avec: Toan Nguyen , Solveig Heide , Lucie Guilbaud , Stéphanie Valence , Saskia Vande Perre , Eléonore Blondiaux , Boris Keren , Geneviève Quenum-Miraillet , Jean-Marie Jouannic , Laurent Mandelbrot , Olivier Picone , Agnès Guet , Vassilis Tsatsaris , Mathieu Milh , Nadine Girard , Marie Vincent , Mathilde Nizon , Céline Poirsier , Alexandre Vivanti , Alexandra Benachi , Vincent des Portes , Laurent Guibaud , Olivier Patat , Myrtille Spentchian , Lisa Frugère , Delphine Héron , Catherine Garel

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Human molecular genetics
Avec: Elham Khosrowabadi , Cécile Mignon-Ravix , Florence Riccardi , Pierre Cacciagli , Béatrice Desnous , Sabine Sigaudy , Mathieu Milh , Laurent Villard , Lena Kjellén , Florence Molinari

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

EBioMedicine
Avec: Nazanin Azarinejad Mohammadi , Philip Kiær Ahring , Vivian Wan Yu Liao , Han Chow Chua , Sebastián Ortiz de la Rosa , Katrine Marie Johannesen , Yael Michaeli-Yossef , Aline Vincent-Devulder , Catherine Meridda , Ange-Line Bruel , Alessandra Rossi , Chirag Patel , Joerg Klepper , Paolo Bonanni , Sara Minghetti , Marina Trivisano , Nicola Specchio , David Amor , Stéphane Auvin , Sarah Baer , Pierre Meyer , Mathieu Milh , Vincenzo Salpietro , Reza Maroofian , Johannes R Lemke , Sarah Weckhuysen , Palle Christophersen , Guido Rubboli , Mary Chebib , Anders A Jensen , Nathan L Absalom , Rikke Steensbjerre Møller

Pathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy.

Revue neurologique
Avec: L Gauer , S Lagarde , M-P Valenti-Hirsch , J Makhalova , M Milh , S Baer , A Lepine , I Ollivier , D Scavarda , E Hirsch , F Bartolomei , A De Saint-Martin , N Villeneuve

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elisa Cali , Tania Quirin , Clarissa Rocca , Stephanie Efthymiou , Antonella Riva , Dana Marafi , Maha S Zaki , Mohnish Suri , Roberto Dominguez , Hasnaa M Elbendary , Shahryar Alavi , Mohamed S Abdel-Hamid , Heba Morsy , Frederic Tran Mau-Them , Mathilde Nizon , Pavel Tesner , Lukáš Ryba , Faisal Zafar , Nuzhat Rana , Nebal W Saadi , Zahra Firoozfar , Pinar Gencpinar , Bulent Unay , Canan Ustun , Ange-Line Bruel , Christine Coubes , Jennifer Stefanich , Ozlem Sezer , Emanuele Agolini , Antonio Novelli , Gessica Vasco , Donatella Lettori , Mathieu Milh , Laurent Villard , Shimriet Zeidler , Henry Opperman , Vincent Strehlow , Mahmoud Y Issa , Hebatallah El Khassab , Prem Chand , Shahnaz Ibrahim , Ali Nejad-Rashidi , Mohammad Miryounesi , Pegah Larki , Jennifer Morrison , Ingrid Cristian , Isabelle Thiffault , Nicole L Bertsch , Grace J Noh , John Pappas , Ellen Moran , Nikolaos M Marinakis , Joanne Traeger-Synodinos , Susan Hosseini , Mohammad Reza Abbaszadegan , Roseline Caumes , Lisenka E L M Vissers , Maedeh Neshatdoust , Mostafa Zohour Montazer , Elmostafa El Fahime , Christin Canavati , Lara Kamal , Moien Kanaan , Omar Askander , Victoria Voinova , Olga Levchenko , Shahzhad Haider , Sara S Halbach , Elias Rayana Maia , Salehi Mansoor , Jain Vivek , Sanjukta Tawde , Viveka Santhosh R Challa , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Lucas Alves Victor , Benito Pinero-Banos , Jennifer Hague , Heba Ahmed Ei-Awady , Adelia Maria de Miranda Henriques-Souza , Huma Arshad Cheema , Muhammad Nadeem Anjum , Sara Idkaidak , Firas Alqarajeh , Osama Atawneh , Hagar Mor-Shaked , Tamar Harel , Giovanni Zifarelli , Peter Bauer , Fernando Kok , Joao Paulo Kitajima , Fabiola Monteiro , Juliana Josahkian , Gaetan Lesca , Nicolas Chatron , Dorothe Ville , David Murphy , Jeffrey L Neul , Sureni V Mullegama , Amber Begtrup , Isabella Herman , Tadahiro Mitani , Jennifer E Posey , Chee Geap Tay , Iram Javed , Lucinda Carr , Farah Kanani , Fiona Beecroft , Lee Hane , Elsayed Abdelkreem , Milan Macek , Luciana Bispo , Marwa Abd Elmaksoud , Farzad Hashemi-Gorji , Davut Pehlivan , David J Amor , Rami Abou Jamra , Wendy K Chung , Eshan Karimiani Ghayoor , Philippe Campeau , Fowzan S Alkuraya , Alistair T Pagnamenta , Joseph Gleeson , James R Lupski , Pasquale Striano , Andres Moreno-De-Luca , Denis L J Lafontaine , Henry Houlden , Reza Maroofian

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Mathieu Milh 43 collaborations
Laurent Villard 14 collaborations
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