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

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

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

Author(s) -

Nicolas Chatron,

Felicitas Becker,

Heba Morsy,

Miriam Schmidts,

Katia Hardies,

Beyhan Tüysüz,

Sandra Roselli,

Maryam Najafi,

Dilek Uludağ Alkaya,

Farah Ashrafzadeh,

Amira Nabil,

Tarek Omar,

Reza Maroofian,

Ehsan Ghayoor Karimiani,

Haytham Hussien,

Fernando Kok,

Luiza Ramos,

Nilay Güneş,

Kaya Bilgüvar,

Audrey Labalme,

Eudéline Alix,

Damien Sanlaville,

Julitta de Bellescize,

AnneLise Poulat,

Ingo Helbig,

Sarah von Spiczak,

Stéphanie Baulac,

Nina Barišić,

Rudi Balling,

Hande Çağlayan,

Dana Craiu,

Renzo Guerrini,

Karl Martin Klein,

Carla Marini,

Hiltrud Muhle,

Felix Rosenow,

José M. Serratosa,

Katalin Štěrbová,

Yvonne G. Weber,

AliReza Moslemi,

Holger Lerche,

Patrick May,

Gaëtan Lesca,

Sarah Weckhuysen,

Homa Tajsharghi

Publication year - 2020

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awaa085

Subject(s) - epilepsy , medicine , encephalopathy , allele , pediatrics , neuroscience , genetics , biology , psychiatry , gene

Chatron et al. describe a novel syndrome caused by bi-allelic loss-of-function mutations in GAD1 , the gene encoding the GABA synthetic enzyme GAD67. The syndrome is characterized by the unique association of developmental and epileptic encephalopathy, cleft palate, joint contractures and/or omphalocele.

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