Progress in Understanding and Treating SCN2A-Mediated Disorders.
Ontology highlight
ABSTRACT:
SUBMITTER: Sanders SJ
PROVIDER: S-EPMC6015533 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Publications
Progress in Understanding and Treating SCN2A-Mediated Disorders.
Sanders Stephan J SJ Campbell Arthur J AJ Cottrell Jeffrey R JR Moller Rikke S RS Wagner Florence F FF Auldridge Angie L AL Bernier Raphael A RA Catterall William A WA Chung Wendy K WK Empfield James R JR George Alfred L AL Hipp Joerg F JF Khwaja Omar O Kiskinis Evangelos E Lal Dennis D Malhotra Dheeraj D Millichap John J JJ Otis Thomas S TS Petrou Steven S Pitt Geoffrey G Schust Leah F LF Taylor Cora M CM Tjernagel Jennifer J Spiro John E JE Bender Kevin J KJ
Trends in neurosciences 20180423 7
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 Na<sub>V</sub>1.2. 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. T ...[more]
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