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

Chatron, Nicolas; Becker, Felicitas; Morsy, Heba; Schmidts, Miriam; Hardies, Katia; Tüysüz, Beyhan; Roselli, Sandra; Najafi, Maryam; Uludağ Alkaya, Dilek; Ashrafzadeh, Farah; Nabil, Amira; Omar, Tarek; Maroofian, Reza; Ghayoor Karimiani, Ehsan; Hussien, Haytham; Kok, Fernando; Ramos, Luiza; Güneş, Nilay; Bilgüvar, Kaya; Labalme, Audrey; Alix, Eudéline; Sanlaville, Damien; de Bellescize, Julitta; Poulat, Anne‐Lise; Helbig, Ingo; von Spiczak, Sarah; Baulac, Stéphanie; Barišić, Nina; Balling, Rudi; Çağlayan, Hande; Craiu, Dana; Guerrini, Renzo; Martin Klein, Karl; Marini, Carla; Muhle, Hiltrud; Rosenow, Felix; M. Serratosa, José; Štěrbová, Katalin; Weber, Yvonne; Moslemi, Ali‐Reza; Lerche, Holger; May, Patrick; Lesca, Gaëtan; Weckhuysen, Sarah; Tajsharghi, Homa

doi:10.1093/brain/awaa085

Public

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

Published in Brain • Mar 6, 2020

Authors:

Nicolas Chatron

Felicitas Becker

Heba Morsy

Abstract

Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic develop...

Subject

Epilepsy

Medicine

Encephalopathy

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