Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.

doi:10.1186/s13073-021-00884-0

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Article

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.

Genome medicine - 26 Apr 2021

Haigh Jessica L, Adhikari Anna, Copping Nycole A, Stradleigh Tyler, Wade A Ayanna, Catta-Preta Rinaldo, Su-Feher Linda, Zdilar Iva, Morse Sarah, Fenton Timothy A, Nguyen Anh, Quintero Diana, Agezew Samrawit, Sramek Michael, Kreun Ellie J, Carter Jasmine, Gompers Andrea, Lambert Jason T, Canales Cesar P, Pennacchio Len A, Visel Axel, Dickel Diane E, Silverman Jill L, Nord Alex S

Abstract excerpt

BACKGROUND: Genes with multiple co-active promoters appear common in brain, yet little is known about functional requirements for these potentially redundant genomic regulatory elements. SCN1A, which encodes the NaV1.1 sodium channel alpha subunit, is one such gene with two co-active promoters. Mutations in SCN1A are associated with epilepsy, including Dravet syndrome (DS). The majority of DS patients harbor...

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PMID: 33910599
DOI: 10.1186/s13073-021-00884-0
PMCID: PMC8080386

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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