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.
journal_name
Trends Neuroscijournal_title
Trends in neurosciencesauthors
Sanders SJ,Campbell AJ,Cottrell JR,Moller RS,Wagner FF,Auldridge AL,Bernier RA,Catterall WA,Chung WK,Empfield JR,George AL Jr,Hipp JF,Khwaja O,Kiskinis E,Lal D,Malhotra D,Millichap JJ,Otis TS,Petrou S,Pitt G,Schusdoi
10.1016/j.tins.2018.03.011subject
Has Abstractpub_date
2018-07-01 00:00:00pages
442-456issue
7eissn
0166-2236issn
1878-108Xpii
S0166-2236(18)30072-9journal_volume
41pub_type
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