Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A

Abstract excerpt

Mutations in <i>SCN2A</i> have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel <i>SCN2A</i> missense variant c.1147C>G, p.Q383E affecting a residue proximal to the highly conserved selectivity filter in the...

Topics

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

• Share to Cardiac electrophysiology and arrhythmias
• Share to Epilepsy research and treatment
• Share to Ion channel regulation and function