Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy.

ABSTRACT: Patients with early infantile epileptic encephalopathy (EIEE) are at increased risk for sudden unexpected death in epilepsy (SUDEP). De novo mutations of the sodium channel gene SCN8A, encoding the sodium channel Na_v1.6, result in EIEE13 (OMIM 614558), which has a 10% risk of SUDEP. Here, we investigated the cardiac phenotype of a mouse model expressing the gain of function EIEE13 patient mutation p.Asn1768Asp in Scn8a (Na_v1.6-N1768D). We tested Scn8a^N1768D/+ mice for alterations in cardiac excitability. We observed prolongation of the early stages of action potential (AP) repolarization in mutant myocytes vs. controls. Scn8a^N1768D/+ myocytes were hyperexcitable, with a lowered threshold for AP firing, in

SUBMITTER: Frasier CR 

PROVIDER: S-EPMC5111690 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature