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Trends Neurosci DOI:10.1016/j.tins.2018.03.011

Progress in Understanding and Treating SCN2A-Mediated Disorders.

Publication TypeJournal Article
Year of Publication2018
AuthorsSanders, SJ, Campbell, AJ, Cottrell, JR, Moller, RS, Wagner, FF, Auldridge, AL, Bernier, RA, Catterall, WA, Chung, WK, Empfield, JR, George, AL, Hipp, JF, Khwaja, O, Kiskinis, E, Lal, D, Malhotra, D, Millichap, JJ, Otis, TS, Petrou, S, Pitt, G, Schust, LF, Taylor, CM, Tjernagel, J, Spiro, JE, Bender, KJ
JournalTrends Neurosci
Volume41
Issue7
Pages442-456
Date Published2018 07
ISSN1878-108X
KeywordsAnimals, Humans, NAV1.2 Voltage-Gated Sodium Channel, Neurodevelopmental Disorders
Abstract

Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel Na1.2. Functional assays demonstrate strong correlation between genotype and phenotype. This insight can help guide therapeutic decisions and raises the possibility that ligands that selectively enhance or diminish channel function may improve symptoms. The well-defined function of sodium channels makes SCN2A an important test case for investigating the neurobiology of neurodevelopmental disorders more generally. Here, we discuss the progress made, through the concerted efforts of a diverse group of academic and industry scientists as well as policy advocates, in understanding and treating SCN2A-related disorders.

DOI10.1016/j.tins.2018.03.011
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/29691040?dopt=Abstract

Alternate JournalTrends Neurosci.
PubMed ID29691040
PubMed Central IDPMC6015533
Grant ListR01 MH100047 / MH / NIMH NIH HHS / United States