D

V

DOUCHAMPS , Vincent

Last name: DOUCHAMPS

First name: Vincent

May 2019 (v1)

Journal article

Metadata-only

A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies

Salgueiro-Pereira, Ana Rita Duprat, Fabrice Pousinha, Paula

SCN1A (NaV1.1 sodium channel) mutations cause Dravet syndrome (DS) and GEFS+ (which is in general milder), and are risk factors in other epilepsies. Phenotypic variability limits precision medicine in epilepsy, and it is important to identify factors that set phenotype severity and their mechanisms. It is not yet clear whether SCN1A mutations...

Uploaded on: December 4, 2022