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Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain

23 Aug 2021

Abstract excerpt

BACKGROUND: Genetic variants in the voltage-gated sodium channels SCN1A, SCN2A, SCN3A, and SCN8A are leading causes of epilepsy, developmental delay, and autism spectrum disorder. The mRNA splicing patterns of all four genes vary across development in the rodent brain, including mutually exclusive copies of the fifth protein-coding exon detected in the neonate (5N) and adult (5A). A second pair of mutually...

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PMID: 34425903
DOI: 10.1186/s13073-021-00949-0

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