Article
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Brain : a journal of neurology - 1 May 2020
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
Abstract excerpt
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 developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11...
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