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Article

Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.

Brain : a journal of neurology - 4 Apr 2024

Sparber Peter, Sharova Margarita, Davydenko Ksenia, Pyankov Denis, Filatova Alexandra, Skoblov Mikhail

Abstract excerpt

Variants that disrupt normal pre-mRNA splicing are increasingly being recognized as a major cause of monogenic disorders. The SCN1A gene, a key epilepsy gene that is linked to various epilepsy phenotypes, is no exception. Approximately 10% of all reported variants in the SCN1A gene are designated as splicing variants, with many located outside of the canonical donor and acceptor splice sites, and most have not...

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PMID: 37956038
DOI: 10.1093/brain/awad383

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