@article{db94e9dc1b404b59b3d5035b2a987b44,
title = "Progress in Understanding and Treating SCN2A-Mediated 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 NaV1.2. 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.",
keywords = "Na1.2, autism spectrum disorder, developmental delay, epilepsy, intellectual disability, neurodevelopment, neurodevelopmental disorder, sodium channel",
author = "Sanders, {Stephan J.} and Campbell, {Arthur J.} and Cottrell, {Jeffrey R.} and Moller, {Rikke S.} and Wagner, {Florence F.} and Auldridge, {Angie L.} and Bernier, {Raphael A.} and Catterall, {William A.} and Chung, {Wendy K.} and Empfield, {James R.} and George, {Alfred L.} and Hipp, {Joerg F.} and Omar Khwaja and Evangelos Kiskinis and Dennis Lal and Dheeraj Malhotra and Millichap, {John J.} and Otis, {Thomas S.} and Steven Petrou and Geoffrey Pitt and Schust, {Leah F.} and Taylor, {Cora M.} and Jennifer Tjernagel and Spiro, {John E.} and Bender, {Kevin J.}",
note = "Funding Information: This work was supported by grants from the Simons Foundation (SFARI No. 402281, S.J.S.; No. 513133, K.J.B.; No. 491201, A.L.G.; No. 349984, G.P.), the NIH (NIMH No. 100047, R.A.B.), and the Stanley Center for Psychiatric Research at the Broad Institute (A.J.C., J.R.C., D.L., and F.F.W.). We thank Markus Wolff and Katrine Johannesen for their help in combining the lists of published SCN2A variants (Table S1). Funding Information: This work was supported by grants from the Simons Foundation (SFARI No. 402281 , S.J.S.; No. 513133 , K.J.B.; No. 491201 , A.L.G.; No. 349984 , G.P.), the NIH (NIMH No. 100047 , R.A.B.), and the Stanley Center for Psychiatric Research at the Broad Institute (A.J.C., J.R.C., D.L., and F.F.W.). We thank Markus Wolff and Katrine Johannesen for their help in combining the lists of published SCN2A variants (Table S1). Publisher Copyright: {\textcopyright} 2018 Elsevier Ltd",
year = "2018",
month = jul,
doi = "10.1016/j.tins.2018.03.011",
language = "English (US)",
volume = "41",
pages = "442--456",
journal = "Trends in Neurosciences",
issn = "0378-5912",
publisher = "Elsevier Limited",
number = "7",
}