| Literature DB >> 29691040 |
Stephan J Sanders1, Arthur J Campbell2, Jeffrey R Cottrell2, Rikke S Moller3, Florence F Wagner2, Angie L Auldridge4, Raphael A Bernier5, William A Catterall6, Wendy K Chung7, James R Empfield8, Alfred L George9, Joerg F Hipp10, Omar Khwaja10, Evangelos Kiskinis11, Dennis Lal2, Dheeraj Malhotra10, John J Millichap12, Thomas S Otis13, Steven Petrou14, Geoffrey Pitt15, Leah F Schust4, Cora M Taylor16, Jennifer Tjernagel17, John E Spiro17, Kevin J Bender18.
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.Entities:
Keywords: Na(V)1.2; autism spectrum disorder; developmental delay; epilepsy; intellectual disability; neurodevelopment; neurodevelopmental disorder; sodium channel
Mesh：
Substances：
Year: 2018 PMID： 29691040 PMCID： PMC6015533 DOI： 10.1016/j.tins.2018.03.011
Source DB: PubMed Journal: Trends Neurosci ISSN： 0166-2236 Impact factor: 13.837