Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.

ABSTRACT: Patients with early infantile epileptic encephalopathy (EIEE) experience severe seizures and cognitive impairment and are at increased risk for sudden unexpected death in epilepsy (SUDEP). EIEE13 [Online Mendelian Inheritance in Man (OMIM) # 614558] is caused by de novo missense mutations in the voltage-gated sodium channel gene SCN8A Here, we investigated the neuronal phenotype of a mouse model expressing the gain-of-function SCN8A patient mutation, p.Asn1768Asp (Na_v1.6-N1768D). Our results revealed regional and neuronal subtype specificity in the effects of the N1768D mutation. Acutely dissociated hippocampal neurons from Scn8a^N1768D/+ mice showed increases in persistent sodium current (I_Na) density in CA1 pyramidal but

SUBMITTER: Lopez-Santiago LF 

PROVIDER: S-EPMC5338511 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature