Article
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Epilepsia - 1 Apr 2024
Gallagher Declan, Pérez-Palma Eduardo, Bruenger Tobias, Ghanty Ismael, Brilstra Eva, Ceulemans Berten, Chemaly Nicole, de Lange Iris, Depienne Christel, Guerrini Renzo, Mei Davide, Møller Rikke S, Nabbout Rima, Regan Brigid M, Schneider Amy L, Scheffer Ingrid E, Schoonjans An-Sofie, Symonds Joseph D, Weckhuysen Sarah, Zuberi Sameer M, Lal Dennis, Brunklaus Andreas
Abstract excerpt
OBJECTIVE: SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, and genotype-phenotype associations remain poorly understood. METHODS: We assessed data from a retrospective cohort of 1018 individuals with SCN1A-related epilepsies. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.