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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
Date Published2018 07
KeywordsAnimals, Humans, NAV1.2 Voltage-Gated Sodium Channel, Neurodevelopmental Disorders

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.


Alternate JournalTrends Neurosci
PubMed ID29691040
PubMed Central IDPMC6015533
Grant ListR01 MH100047 / MH / NIMH NIH HHS / United States
U54 HD083091 / HD / NICHD NIH HHS / United States