A mutation in the SCN2A gene associated with BFNIS leads to seizures and behavioral impairment in a mouse model

Abstract

Aims: Voltage-gated sodium channels are essential to initiate action potentials in brain neurons. Mutations of the SCN2A gene encoding NaV1.2 are associated with benign familial neonatal infantile seizures (BFNIS) or severe epileptic encephalopathy. The aim of this study is to generate a mouse model of BFNIS caused by a mutation in the SCN2A gene to better understand the pathophysiology and to potentially develop new therapeutic strategies.