Amy McTague

None None 10 collaborations

Ingrid E Scheffer 8 collaborations

Manju A Kurian 8 collaborations

J Helen Cross 6 collaborations

Heather C Mefford 6 collaborations

Alba Sanchis-Juan 5 collaborations

F Lucy Raymond 4 collaborations

Rikke S Møller 4 collaborations

Lara Menzies 4 collaborations

Adam McTague 3 collaborations

Keren J Carss 3 collaborations

Annapurna Poduri 3 collaborations

Johannes R Lemke 3 collaborations

Konrad Platzer 3 collaborations

Damien Lederer 3 collaborations

Maria H Eriksson 3 collaborations

John Booth 3 collaborations

Rory J Piper 3 collaborations

Aswin Chari 3 collaborations

Patricia Martin Sanfilippo 3 collaborations

Ana Perez Caballero 3 collaborations

Sophie Adler 3 collaborations

Konrad Wagstyl 3 collaborations

Martin M Tisdall 3 collaborations

Torsten Baldeweg 3 collaborations

Gregory Costain 3 collaborations

Renzo Guerrini 3 collaborations

Gaetan Lesca 3 collaborations

Shelagh Joss 3 collaborations

Andreas Brunklaus 3 collaborations

Sameer M Zuberi 3 collaborations

Detelina Grozeva 2 collaborations

Ronit M Pressler 2 collaborations

Evangeline Wassmer 2 collaborations

Tobias B Haack 2 collaborations

Gemma L Carvill 2 collaborations

Amelie Piton 2 collaborations

Gautam Ambegaonkar 2 collaborations

Katrien Jansen 2 collaborations

Liesbeth De Waele 2 collaborations

Nienke E Verbeek 2 collaborations

Pasquale Striano 2 collaborations

Ulvi Vaher 2 collaborations

Dennis Lal 2 collaborations

Vivian W Y Liao 2 collaborations

Philip K Ahring 2 collaborations

Kirstie J Whitaker 2 collaborations

Alissa M D'Gama 2 collaborations

Nicole S Y Liang 2 collaborations

Zornitza Stark 2 collaborations

Vann Chau 2 collaborations

Soumya Sundaram 2 collaborations

Ashalatha Radhakrishnan 2 collaborations

Ramshekhar N Menon 2 collaborations

Kenneth A Myers 2 collaborations

Deepak Gill 2 collaborations

Lynette G Sadleir 2 collaborations

Carla Marini 2 collaborations

Pia Zacher 2 collaborations

Alexander V Timoshenko 2 collaborations

Joseph D Symonds 2 collaborations

Constance Smith-Hicks 2 collaborations

Wendy K Chung 2 collaborations

Jennifer A Sullivan 2 collaborations

Vandana Shashi 2 collaborations

Katy Barwick 2 collaborations

Jennifer Friedman 2 collaborations

Boris Keren 2 collaborations

Cyril Mignot 2 collaborations

Shekeeb S Mohammad 2 collaborations

Sofia T Duarte 2 collaborations

Julie Vogt 2 collaborations

Emma Wakeling 2 collaborations

Philippe M Campeau 2 collaborations

Friederike Moeller 2 collaborations

Christin Eltze 2 collaborations

Gerald Cooray 2 collaborations

Lucie Dupuis 2 collaborations

Issaka Yougbare 1 collaboration

Liwei He 1 collaboration

Christopher H Choy 1 collaboration

Jin Su 1 collaboration

Beata Gajewska 1 collaboration

Ali Azizi 1 collaboration

Kathleen M Gorman 1 collaboration

Esther Meyer 1 collaboration

Egidio Spinelli 1 collaboration

Emily Bryant 1 collaboration

Adi Reich 1 collaboration

Amy L Schneider 1 collaboration

Michael A Simpson 1 collaboration

Geoff D Debelle 1 collaboration

Jenny Morton 1 collaboration

Diana Sieciechowicz 1 collaboration

Eric Jan-Kamsteeg 1 collaboration

Alex R Paciorkowski 1 collaboration

Mary D King 1 collaboration

Gary McCullagh 1 collaboration

John J Millichap 1 collaboration

Jill Clayton-Smith 1 collaboration

Eamonn R Maher 1 collaboration

Giada Rossignoli 1 collaboration

Arianna Ferrini 1 collaboration

Serena Barral 1 collaboration

Katrine M Johannesen 1 collaboration

Sumaiya Iqbal 1 collaboration

Milena Guazzi 1 collaboration

Nazanin A Mohammadi 1 collaboration

Eduardo Pérez-Palma 1 collaboration

Elise Schaefer 1 collaboration

Anne De Saint Martin 1 collaboration

Marie Therese Abiwarde 1 collaboration

Roser Pons 1 collaboration

Helen Firth 1 collaboration

Marie Deprez 1 collaboration

Eva H Briltra 1 collaboration

Marjan van Kempen 1 collaboration

Walid Fazeli 1 collaboration

Federico Zara 1 collaboration

Gerhard Visser 1 collaboration

Hilde M H Braakman 1 collaboration

Martin Haeusler 1 collaboration

Miriam Elbracht 1 collaboration

Thomas Smol 1 collaboration

Joanna Kennedy 1 collaboration

Karl Martin Klein 1 collaboration

Ping Yee Billie Au 1 collaboration

Kimberly Smyth 1 collaboration

Julie Kaplan 1 collaboration

Morgan Thomas 1 collaboration

Malin K Dewenter 1 collaboration

Argirios Dinopoulos 1 collaboration

Arthur J Campbell 1 collaboration

Elena Gardella 1 collaboration

Jenny Lange 1 collaboration

Haiyan Zhou 1 collaboration

Sarah Mulhern 1 collaboration

Beth R Sheidley 1 collaboration

Fadil Boodhoo 1 collaboration

Sarah Buts 1 collaboration

Natalie J Chandler 1 collaboration

Joanna Cobb 1 collaboration

Meredith Curtis 1 collaboration

Edward J Higginbotham 1 collaboration

Jonathon Holland 1 collaboration

Tayyaba Khan 1 collaboration

Julia Koh 1 collaboration

Lyndsey McRae 1 collaboration

Sarah E Nesbitt 1 collaboration

Brandon T Oby 1 collaboration

Ben Paternoster 1 collaboration

Alistair Patton 1 collaboration

Graham Rose 1 collaboration

Elizabeth Scotchman 1 collaboration

Rozalia Valentine 1 collaboration

Kimberly N Wiltrout 1 collaboration

Robin Z Hayeems 1 collaboration

Puneet Jain 1 collaboration

Sebastian Lunke 1 collaboration

Christian R Marshall 1 collaboration

Shira Rockowitz 1 collaboration

Neil J Sebire 1 collaboration

Susan M White 1 collaboration

Lyn S Chitty 1 collaboration

Katherine B Howell 1 collaboration

Alfiya Fasaludeen 1 collaboration

Manna Jose 1 collaboration

Moinak Banerjee 1 collaboration

U K Madhusoodanan 1 collaboration

Rosemary Burgess 1 collaboration

Shuyu Wang 1 collaboration

Katja E Boysen 1 collaboration

Xiaoling Yang 1 collaboration

Qi Zeng 1 collaboration

Anne Rochtus 1 collaboration

Marina Trivisano 1 collaboration

Nicola Specchio 1 collaboration

Yue-Hua Zhang 1 collaboration

Annapurna H Poduri 1 collaboration

Alexandre N Datta 1 collaboration

Nadia Bahi-Buisson 1 collaboration

Thierry Bienvenu 1 collaboration

Sarah E Buerki 1 collaboration

Fiona Gardiner 1 collaboration

Bénédicte Heron 1 collaboration

Anna Kaminska 1 collaboration

Christian M Korff 1 collaboration

Anne Lepine 1 collaboration

Cyrill Mignot 1 collaboration

Matthieu Milh 1 collaboration

Amélie Piton 1 collaboration

Susanne Ruf 1 collaboration

Anne de Saint Martin 1 collaboration

Koen Van Gassen 1 collaboration

Dorothée Ville 1 collaboration

Nathalie Villeneuve 1 collaboration

Julie Panetta 1 collaboration

Chloe Stutterd 1 collaboration

Thorsten Stanley 1 collaboration

Samantha Marin 1 collaboration

John Nguyen 1 collaboration

Carmen Barba 1 collaboration

Anna Rosati 1 collaboration

Richard H Scott 1 collaboration

Mohamed I Gatie 1 collaboration

Danielle M Spice 1 collaboration

Amritpal Garha 1 collaboration

Mariam Ahmer 1 collaboration

Gregory M Kelly 1 collaboration

Eleni Zarakoviti 1 collaboration

Roz Shafran 1 collaboration

David Skuse 1 collaboration

Neha Batura 1 collaboration

Tom Palmer 1 collaboration

Emma Dalrymple 1 collaboration

Sophie D Bennett 1 collaboration

Colin Reilly 1 collaboration

Sameer Zuberi 1 collaboration

Lisa Lenaerts 1 collaboration

Sara Reynhout 1 collaboration

Iris Verbinnen 1 collaboration

Frédéric Laumonnier 1 collaboration

Annick Toutain 1 collaboration

Frédérique Bonnet-Brilhault 1 collaboration

Yana Hoorne 1 collaboration

Anna K Chassevent 1 collaboration

Bart Loeys 1 collaboration

Pascal Joset 1 collaboration

Katharina Steindl 1 collaboration

Anita Rauch 1 collaboration

Sarju G Mehta 1 collaboration

Koenraad Devriendt 1 collaboration

Susan E Holder 1 collaboration

Tamison Jewett 1 collaboration

Lauren M Baldwin 1 collaboration

William G Wilson 1 collaboration

Shelley Towner 1 collaboration

Siddharth Srivastava 1 collaboration

Hannah F Johnson 1 collaboration

Cornelia Daumer-Haas 1 collaboration

Martina Baethmann 1 collaboration

Anna Ruiz 1 collaboration

Elisabeth Gabau 1 collaboration

Vani Jain 1 collaboration

Vinod Varghese 1 collaboration

Ali Al-Beshri 1 collaboration

Stephen Fulton 1 collaboration

Oded Wechsberg 1 collaboration

Naama Orenstein 1 collaboration

Katrina Prescott 1 collaboration

Anne-Marie Childs 1 collaboration

Laurence Faivre 1 collaboration

Sébastien Moutton 1 collaboration

Suzanne M Koudijs 1 collaboration

Malou Heijligers 1 collaboration

Emma Kivuva 1 collaboration

Alison Male 1 collaboration

Yvette van Ierland 1 collaboration

Barbara Plecko 1 collaboration

Isabelle Maystadt 1 collaboration

Rizwan Hamid 1 collaboration

Vickie L Hannig 1 collaboration

Gunnar Houge 1 collaboration

Veerle Janssens 1 collaboration

Chiara Klöckner 1 collaboration

Heinrich Sticht 1 collaboration

Bernt Popp 1 collaboration

Holly E Babcock 1 collaboration

Dewi P Bakker 1 collaboration

Michaela V Bonfert 1 collaboration

Carsten G Bönnemann 1 collaboration

Eva H Brilstra 1 collaboration

Angus J Clarke 1 collaboration

Patrick Devine 1 collaboration

Sandra Donkervoort 1 collaboration

Jamie L Fraser 1 collaboration

Alyssa Gates 1 collaboration

Jamal Ghoumid 1 collaboration

Emma Hobson 1 collaboration

Gabriella Horvath 1 collaboration

Jennifer Keller-Ramey 1 collaboration

Virgina Lee 1 collaboration

Kathleen A Leppig 1 collaboration

Johan Lundgren 1 collaboration

Marie T McDonald 1 collaboration

Heather M McLaughlin 1 collaboration

Mohamad A Mikati 1 collaboration

Caroline Nava 1 collaboration

Julian R Sampson 1 collaboration

Joseph T C Shieh 1 collaboration

Marwan Shinawi 1 collaboration

Anne Slavotinek 1 collaboration

Tommy Stödberg 1 collaboration

Nicholas Stong 1 collaboration

Ashley C Taylor 1 collaboration

Tomi L Toler 1 collaboration

Marie-José van den Boogaard 1 collaboration

Saskia N van der Crabben 1 collaboration

Koen L I van Gassen 1 collaboration

Richard H van Jaarsveld 1 collaboration

Jessica Van Ziffle 1 collaboration

Alexandrea F Wadley 1 collaboration

Matias Wagner 1 collaboration

Kristen Wigby 1 collaboration

Saskia B Wortmann 1 collaboration

Yuri A Zarate 1 collaboration

Giulia Barcia 1 collaboration

Sophia Varadkar 1 collaboration

Nicolas Chatron 1 collaboration

Elena Parrini 1 collaboration

Davide Mei 1 collaboration

Rima Nabbout 1 collaboration

Rada Tazhitdinova 1 collaboration

Dimitri M Kullmann 1 collaboration

Sanjay Sisodiya 1 collaboration

Nathan L Absalom 1 collaboration

Kavitha Kothur 1 collaboration

Dinesh C Indurthi 1 collaboration

Bruce Bennetts 1 collaboration

Christopher Troedson 1 collaboration

Sachin Gupta 1 collaboration

Iain S McGregor 1 collaboration

Michael T Bowen 1 collaboration

Sandrine Mary 1 collaboration

Russell C Dale 1 collaboration

Mary Chebib 1 collaboration

Nandini Mitta 1 collaboration

Ajith Cherian 1 collaboration

G K Madhavilatha 1 collaboration

Ashraf U Mannan 1 collaboration

Sheela Nampoothiri 1 collaboration

Sanjeev V Thomas 1 collaboration

Marcia A Hasenahuer 1 collaboration

James A Baker 1 collaboration

Janet Thornton 1 collaboration

Tobias Brünger 1 collaboration

Tony Feng 1 collaboration

Carmen Fons 1 collaboration

Anni Lehikoinen 1 collaboration

Eleni Panagiotakaki 1 collaboration

Mihaela-Adela Vintan 1 collaboration

Joseph Symonds 1 collaboration

James Andrew 1 collaboration

Alexis Arzimanoglou 1 collaboration

Sarah Delima 1 collaboration

Julie Gallois 1 collaboration

Donncha Hanrahan 1 collaboration

Stewart MacLeod 1 collaboration

Dragan Marjanovic 1 collaboration

Noemi Nuñez-Enamorado 1 collaboration

Eduardo Perez-Palma 1 collaboration

M Scott Perry 1 collaboration

Karen Pysden 1 collaboration

Sophie J Russ-Hall 1 collaboration

Krystal Sully 1 collaboration

Steffen Syrbe 1 collaboration

Murugan Velayutham 1 collaboration

Shelly Weiss 1 collaboration

Elaine Wirrell 1 collaboration

Massimo Mantegazza 1 collaboration

Sandrine Cestèle 1 collaboration

Jai Sidpra 1 collaboration

Sniya Sudhakar 1 collaboration

Asthik Biswas 1 collaboration

Flavia Massey 1 collaboration

Valentina Turchetti 1 collaboration

Tracy Lau 1 collaboration

Edward Cook 1 collaboration

Javeria Raza Alvi 1 collaboration

Hasnaa M Elbendary 1 collaboration

Jerry L Jewell 1 collaboration

Antonella Riva 1 collaboration

Alessandro Orsini 1 collaboration

Aglaia Vignoli 1 collaboration

Zara Federico 1 collaboration

Jessica Rosenblum 1 collaboration

An-Sofie Schoonjans 1 collaboration

Matthias de Wachter 1 collaboration

Ignacio Delgado Alvarez 1 collaboration

Ana Felipe-Rucián 1 collaboration

Nourelhoda A Haridy 1 collaboration

Shahzad Haider 1 collaboration

Mashaya Zaman 1 collaboration

Selina Banu 1 collaboration

Najwa Anwaar 1 collaboration

Fatima Rahman 1 collaboration

Shazia Maqbool 1 collaboration

Rashmi Yadav 1 collaboration

Vincenzo Salpietro 1 collaboration

Reza Maroofian 1 collaboration

Rajan Patel 1 collaboration

Rupa Radhakrishnan 1 collaboration

Sanjay P Prabhu 1 collaboration

Klaske Lichtenbelt 1 collaboration

Helen Stewart 1 collaboration

Yoshiko Murakami 1 collaboration

Ulrike Löbel 1 collaboration

Felice D'Arco 1 collaboration

Wendy Jones 1 collaboration

Eleanor Hay 1 collaboration

Sanjay Bhate 1 collaboration

Thomas S Jacques 1 collaboration

David M Mirsky 1 collaboration

Matthew T Whitehead 1 collaboration

Maha S Zaki 1 collaboration

Tipu Sultan 1 collaboration

Anna C Jansen 1 collaboration

Maarten Lequin 1 collaboration

Linda S de Vries 1 collaboration

Mariasavina Severino 1 collaboration

Andrew C Edmondson 1 collaboration

Henry Houlden 1 collaboration

Stephanie Efthymiou 1 collaboration

Kshitij Mankad 1 collaboration

Freya Prentice 1 collaboration

Krishna Das 1 collaboration

Sara Shavel-Jessop 1 collaboration

Elizabeth E Palmer 1 collaboration

Michael Pusch 1 collaboration

Alessandra Picollo 1 collaboration

Caitlin Forwood 1 collaboration

Matthew H Nguyen 1 collaboration

Vanessa Suckow 1 collaboration

Jessica Gibbons 1 collaboration

Alva Hoff 1 collaboration

Lisa Sigfrid 1 collaboration

Andre Megarbane 1 collaboration

Mathilde Nizon 1 collaboration

Benjamin Cogné 1 collaboration

Claire Beneteau 1 collaboration

Fowzan S Alkuraya 1 collaboration

Aziza Chedrawi 1 collaboration

Mais O Hashem 1 collaboration

Hannah Stamberger 1 collaboration

Sarah Weckhuysen 1 collaboration

Arnaud Vanlander 1 collaboration

Berten Ceulemans 1 collaboration

Sulekha Rajagopalan 1 collaboration

Kenneth Nunn 1 collaboration

Stéphanie Arpin 1 collaboration

Martine Raynaud 1 collaboration

Constance S Motter 1 collaboration

Catherine Ward-Melver 1 collaboration

Katrien Janssens 1 collaboration

Marije Meuwissen 1 collaboration

Diane Beysen 1 collaboration

Nicola Dikow 1 collaboration

Mona Grimmel 1 collaboration

Emma Clement 1 collaboration

David Hunt 1 collaboration

Sharron Townshend 1 collaboration

Michelle Ward 1 collaboration

Linda J Richards 1 collaboration

Cas Simons 1 collaboration

Roberto Mendoza-Londono 1 collaboration

Tracy Dudding-Byth 1 collaboration

Jackie Boyle 1 collaboration

Carol Saunders 1 collaboration

Emily Fleming 1 collaboration

Salima El Chehadeh 1 collaboration

Marie-Aude Spitz 1 collaboration

Bénédicte Gerard 1 collaboration

Marie-Thérèse Abi Warde 1 collaboration

Gillian Rea 1 collaboration

Caoimhe McKenna 1 collaboration

Sofia Douzgou 1 collaboration

Siddharth Banka 1 collaboration

Cigdem Akman 1 collaboration

Jennifer M Bain 1 collaboration

Tristan T Sands 1 collaboration

Golder N Wilson 1 collaboration

Erin J Silvertooth 1 collaboration

Lauren Miller 1 collaboration

Rani Sachdev 1 collaboration

Rebecca Macintosh 1 collaboration

Olivier Monestier 1 collaboration

Deniz Karadurmus 1 collaboration

Felicity Collins 1 collaboration

Melissa Carter 1 collaboration

Luis Rohena 1 collaboration

Marjolein H Willemsen 1 collaboration

Charlotte W Ockeloen 1 collaboration

Rolph Pfundt 1 collaboration

Sanne D Kroft 1 collaboration

Michael Field 1 collaboration

Francisco E R Laranjeira 1 collaboration

Ana M Fortuna 1 collaboration

Ana R Soares 1 collaboration

Vincent Michaud 1 collaboration

Sophie Naudion 1 collaboration

Sailaja Golla 1 collaboration

David D Weaver 1 collaboration

Lynne M Bird 1 collaboration

Virginia Clowes 1 collaboration

Laura Pölsler 1 collaboration

Maria Blazo 1 collaboration

Emilia K Bijlsma 1 collaboration

Jill A Rosenfeld 1 collaboration

Christian Beetz 1 collaboration

Zöe Powis 1 collaboration

Kirsty McWalter 1 collaboration

Tracy Brandt 1 collaboration

Erin Torti 1 collaboration

Mikaël Mathot 1 collaboration

Ruth Armstrong 1 collaboration

Vera M Kalscheuer 1 collaboration

Mathilde Ripart 1 collaboration

Krishna B Das 1 collaboration

Karyn Megy 1 collaboration

Jonathan Stephens 1 collaboration

Camila Armirola Ricaurte 1 collaboration

Eleanor Dewhurst 1 collaboration

Kayyi Low 1 collaboration

Courtney E French 1 collaboration

Kathleen Stirrups 1 collaboration

Marie Erwood 1 collaboration

Christopher J Penkett 1 collaboration

Olga Shamardina 1 collaboration

Salih Tuna 1 collaboration

Louise C Daugherty 1 collaboration

Nicholas Gleadall 1 collaboration

Antonio Hedrera-Fernández 1 collaboration

Manali Chitre 1 collaboration

Dragana Josifova 1 collaboration

Alasdair Parker 1 collaboration

Julia Rankin 1 collaboration

Evan Reid 1 collaboration

C Geoffrey Woods 1 collaboration

Ali AlMail 1 collaboration

Ahmed Jamjoom 1 collaboration

Amy Pan 1 collaboration

Min Yi Feng 1 collaboration

Katherine Howell 1 collaboration

Kimberly Wiltrout 1 collaboration

Anne S Bassett 1 collaboration

John Christodoulou 1 collaboration

Peter Gill 1 collaboration

Tess Levy 1 collaboration

Paige Siper 1 collaboration

Jacob A S Vorstman 1 collaboration

Catherine Diskin 1 collaboration

Natalie Jewitt 1 collaboration

Danielle Baribeau 1 collaboration

Kristen L Park 1 collaboration

Stewart Macleod 1 collaboration

Martin Armstrong 1 collaboration

Houman Ashrafian 1 collaboration

Geneviève Bernard 1 collaboration

Kathleen Brown 1 collaboration

Mary Callaghan 1 collaboration

Georg Classen 1 collaboration

Julie S Cohen 1 collaboration

Ioana Cutcutache 1 collaboration

Jean-Madeleine de Sainte Agathe 1 collaboration

David Dyment 1 collaboration

Katherine S Elliot 1 collaboration

Arnaud Isapof 1 collaboration

Michael Marble 1 collaboration

Matthew Osmond 1 collaboration

Matthew Page 1 collaboration

Marc Planes 1 collaboration

Sylvia Redon 1 collaboration

James Reese 1 collaboration

Margarita Saenz 1 collaboration

Daniel Stobo 1 collaboration

Christian Stockhaus 1 collaboration

Marie-Laure Vuillaume 1 collaboration

Nicole I Wolf 1 collaboration

Emma L Wakeling 1 collaboration

Grace Yoon 1 collaboration

Julian C Knight 1 collaboration

Affiliations

Publications (31)

Anti-FIM and Anti-FHA Antibodies Inhibit

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies.

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.

Cerebral Organoids and Antisense Oligonucleotide Therapeutics: Challenges and Opportunities.

Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes.

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

Genetic variant interpretation for the neurologist - A pragmatic approach in the next-generation sequencing era in childhood epilepsy.

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

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

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.

Factor associated with the occurrence of epilepsy in autism: a systematic review.

Developmental and epileptic encephalopathies.

Epilepsy and developmental disorders: Next generation sequencing in the clinic.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists.

Epilepsies.

Gain-of-function

Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.

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

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Predicting seizure outcome after epilepsy surgery: Do we need more complex models, larger samples, or better data?

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Réseau de co-auteurs