De novo variants in GABRA4 are associated with a neurological phenotypic spectrum including developmental delay, behavioral abnormalities, and epilepsy
Margot Ernst, Martin Krenn, Florian D. Vogel, Thomas Stockner, Ralph Gradisch, Samin A. Sajan, Matias Wagner, Ira Benkel- Herrenbrück · FENS Forum 2024
Aims: Following the seminal description of a de novo GABRA4 variant associated with early onset epilepsy and developmental delay, additional variants from patients and healthy controls are investigated.Methods: We collected molecular and phenotype data of individuals carrying de novo variants in GABRA4. A total of four patients and their parents were investigated either by exome or genome sequencing, followed by targeted Sanger sequencing in some cases. The variants are investigated utilizing molecular dynamics (MD) simulation studies, and functional studies using two electrode voltage clamp s
ePoster · Neuroscience