Article
Genetic therapeutic advancements for Dravet Syndrome.
Epilepsy & behavior : E&B - 1 Jul 2022
Chilcott Ellie, Díaz Juan Antinao, Bertram Cori, Berti Margherita, Karda Rajvinder
Abstract excerpt
Dravet Syndrome is a genetic epileptic syndrome characterized by severe and intractable seizures associated with cognitive, motor, and behavioral impairments. The disease is also linked with increased mortality mainly due to sudden unexpected death in epilepsy. Over 80% of cases are due to a de novo mutation in one allele of the SCN1A gene, which encodes the α-subunit of the voltage-gated ion channel NaV1.1....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
