Epilepsia
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El-Kamand, Anthony Sze Hon Kan, Isabel T Kristoffersen, Rebekka S Dahl, Anne F Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke-Samar
Published: 202610.1002/epi.70096
Abstract
OBJECTIVE: Pathogenic variants in γ-aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain-of-function (GoF) and loss-o…
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