Progress in treating SCN2A gene-mediated epilepsy / 国际儿科学杂志

ABSTRACT

SCN2A (sodium channel, voltage-gated, type Ⅱ, alpha) gene encodes neuronal voltage-gated sodium channel Na V1.2, one of the four sodium channel analogues expressed in the central nervous system, which participates in the initiation and conduction of a series of neuronal action potentials.The dysfunction of SCN2A gene is associated with a variety of neurodevelopmental disorders, and has been confirmed to be one of the main causes of epilepsy, autism spectrum disorder and mental retardation in infants.There is a strong correlation between the type of gene mutations and clinical phenotypes.The clinical symptoms of seizures can be improved by activating the function of sodium channels.This paper describes the related research on SCN2A gene-mediated epilepsy in recent years, and summarizes its clinical characteristics, which provides a new idea for treatment.