Article
Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.
Molecular psychiatry - 1 Feb 2018
Rubinstein M, Patowary A, Stanaway I B, McCord E, Nesbitt R R, Archer M, Scheuer T, Nickerson D, Raskind W H, Wijsman E M, Bernier R, Catterall W A, Brkanac Z
Abstract excerpt
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder often accompanied by intellectual disability, language impairment and medical co-morbidities. The heritability of autism is high and multiple genes have been implicated as causal. However, most of these genes have been identified in de novo cases. To further the understanding of familial autism, we performed whole-exome sequencing on five...
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