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Bi-allelic GAD1 Variants Cause a Neonatal Onset Syndromic Developmental and Epileptic Encephalopathy

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

BRAIN（2020）

引用 20|浏览66
关键词
GAD1,suppression-burst,hypsarrhythmia,arthrogryposis,omphalocele,cleft palate
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