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Article

SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.

Human molecular genetics - 5 May 2023

Pagni Susanna, Custodio Helena Martins, Frankish Adam, Mudge Jonathan M, Mills James D, Sisodiya Sanjay M

Abstract excerpt

Pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene are responsible for multiple epilepsy phenotypes, including Dravet syndrome, febrile seizures (FS) and genetic epilepsy with FS plus. Phenotypic heterogeneity is a hallmark of SCN1A-related epilepsies, the causes of which are yet to be clarified. Genetic variation in the non-coding regulatory regions of SCN1A could be one...

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Share to Epilepsies, Myoclonic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36715146
DOI: 10.1093/hmg/ddad015
PMCID: PMC10162429

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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