SCN 1A /Na V 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models

Massimo Mantegazza, Vania Broccoli

Pathogenic SCN1A/NaV1.1 mutations cause well defined epilepsies, including Genetic Epilepsy with Febrile Seizures Plus (GEFS+) and the severe epileptic encephalopathy Dravet syndro…