Article

<i>Gabra2</i> is a genetic modifier of Dravet syndrome in mice

2020-04-19

Abstract excerpt

Pathogenic variants in epilepsy genes result in a spectrum of clinical presentation, ranging from benign phenotypes to intractable epilepsies with significant co-morbidities and increased risk of sudden unexpected death in epilepsy (SUDEP). One source of this phenotypic heterogeneity is modifier genes that affect penetrance, dominance or expressivity of a primary pathogenic variant. Mouse models of epilepsy also d...

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Literature Corpus work: 72a9d7fc-4f00-51d0-8077-ff7d8eabf0be
DOI: 10.1101/2020.04.19.048546

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