Open AccessModel systems for studying cellular mechanisms ofSCN1A-related epilepsy
Author(s) -
Soleil S. Schutte,
Ryan J. Schutte,
Eden V. Barragan,
Diane K. O’Dowd
Publication year - 2016
Publication title -
journal of neurophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.302
H-Index - 245
eISSN - 1522-1598
pISSN - 0022-3077
DOI - 10.1152/jn.00824.2015
Subject(s) - dravet syndrome , epilepsy , neuroscience , induced pluripotent stem cell , sodium channel , epilepsy syndromes , medicine , biology , gene , genetics , chemistry , embryonic stem cell , organic chemistry , sodium
Mutations in SCN1A, the gene encoding voltage-gated sodium channel NaV1.1, cause a spectrum of epilepsy disorders that range from genetic epilepsy with febrile seizures plus to catastrophic disorders such as Dravet syndrome. To date, more than 1,250 mutations in SCN1A have been linked to epilepsy. Distinct effects of individual SCN1A mutations on neuronal function are likely to contribute to variation in disease severity and response to treatment in patients. Several model systems have been used to explore seizure genesis in SCN1A epilepsies. In this article we review what has been learned about cellular mechanisms and potential new therapies from these model systems, with a particular emphasis on the novel model system of knock in Drosophila and a look toward the future with expanded use of patient-specific induced pluripotent stem cell-derived neurons.