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

Chatron, Nicolas; Becker, Felicitas; Morsy, Heba; Schmidts, Miriam; Hardies, Katia; Tuysuz, Beyhan; Roselli, Sandra; Najafi, Maryam; Alkaya, Dilek Uludag; Ashrafzadeh, Farah; Nabil, Amira; Omar, Tarek; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Hussien, Haytham; Kok, Fernando; Ramos, Luiza; Gunes, Nilay; Bilguvar, Kaya; Labalme, Audrey; Alix, Eudeline; Sanlaville, Damien; de Bellescize, Julitta; Poulat, Anne-Lise; Moslemi, Ali-Reza; Lerche, Holger; May, Patrick; Lesca, Gaetan; Weckhuysen, Sarah; Tajsharghi, Homa

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

Autor(en):

Chatron, Nicolas; Becker, Felicitas; Morsy, Heba; Schmidts, Miriam; Hardies, Katia; Tuysuz, Beyhan; Roselli, Sandra; Najafi, Maryam; Alkaya, Dilek Uludag; Ashrafzadeh, Farah; Nabil, Amira; Omar, Tarek; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Hussien, Haytham; Kok, Fernando; Ramos, Luiza; Gunes, Nilay; Bilguvar, Kaya; Labalme, Audrey; Alix, Eudeline; Sanlaville, Damien; de Bellescize, Julitta; Poulat, Anne-Lise; Moslemi, Ali-Reza; Lerche, Holger; May, Patrick; Lesca, Gaetan; Weckhuysen, Sarah; Tajsharghi, Homa

Tübinger Autor(en):

Becker, Felicitas
Lerche, Holger

Erschienen in:

Brain (2020), Bd. 143, S. 1447-1461

Verlagsangabe:

Oxford Univ Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1093/brain/awaa085

ISSN:

1460-2156