SCN1A as a therapeutic target for Dravet syndrome.

Abstract excerpt

INTRODUCTION: Dravet syndrome is a severe early infancy-onset developmental and epileptic encephalopathy. Patients have drug-resistant seizures, as well as significant co-morbidities, including developmental impairment, crouch gait, sleep disturbance, and early mortality. The underlying cause is mutations in SCN1A, encoding the sodium channel subunit NaV1.1, in >90% of patients. At present, approved Dravet...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Epilepsies, Myoclonic
• Share to Mutation
• Share to NAV1.1 Voltage-Gated Sodium Channel