Model systems for studying cellular mechanisms of SCN1A-related epilepsy.

Autor:	Schutte SS; Department of Developmental and Cell Biology and Department of Anatomy and Neurobiology, University of California, Irvine, California., Schutte RJ; Department of Developmental and Cell Biology and Department of Anatomy and Neurobiology, University of California, Irvine, California., Barragan EV; Department of Developmental and Cell Biology and Department of Anatomy and Neurobiology, University of California, Irvine, California., O'Dowd DK; Department of Developmental and Cell Biology and Department of Anatomy and Neurobiology, University of California, Irvine, California dkodowd@uci.edu.
Jazyk:	angličtina
Zdroj:	Journal of neurophysiology [J Neurophysiol] 2016 Apr; Vol. 115 (4), pp. 1755-66. Date of Electronic Publication: 2016 Feb 03.
DOI:	10.1152/jn.00824.2015
Abstrakt:	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. (Copyright © 2016 the American Physiological Society.)
Databáze:	MEDLINE
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