De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

ABSTRACT:

Background

Mutations of voltage-gated sodium channel alpha(II) gene, SCN2A, have been described in a wide spectrum of epilepsies. While inherited SCN2A mutations have been identified in multiple mild epilepsy cases, a de novo SCN2A-R102X mutation, which we previously reported in a patient with sporadic intractable childhood localization-related epilepsy, remains unique. To validate the involvement of de novo SCN2A mutations in the etiology of intractable epilepsies, we sought to identify additional instances.

Methods

We performed mutational analyses on SCN2A in 116 patients with severe myoclonic epilepsy in infancy, infantile spasms, and other types of intractable childhood partial and generalized epilepsies and did whole-cell patch-clamp recordings on Na(v)1.2 channels cont

SUBMITTER: Ogiwara I 

PROVIDER: S-EPMC2754324 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature