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Article

Gabra2 is a genetic modifier of Dravet syndrome in mice.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Oct 2021

Hawkins Nicole A, Nomura Toshihiro, Duarte Samantha, Barse Levi, Williams Robert W, Homanics Gregg E, Mulligan Megan K, Contractor Anis, Kearney Jennifer A

Abstract excerpt

Pathogenic variants in epilepsy genes result in a spectrum of clinical severity. One source of phenotypic heterogeneity is modifier genes that affect expressivity of a primary pathogenic variant. Mouse epilepsy models also display varying degrees of clinical severity on different genetic backgrounds. Mice with heterozygous deletion of Scn1a (Scn1a+/-) model Dravet syndrome, a severe epilepsy most often caused by...

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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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Share to Polymorphism, Single Nucleotide

Share to Receptors, GABA-A

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Source

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Identifiers

PMID: 34086081
DOI: 10.1007/s00335-021-09877-1
PMCID: PMC8458207

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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