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Article

The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population.

European journal of human genetics : EJHG - 1 Feb 2023

Smuk Victoria, López-Rivera Javier A, Leu Costin, Lal Dennis

Abstract excerpt

Variants in monogenic epilepsy genes can cause phenotypes of varying severity. For example, pathogenic variants in the SCN1A gene can cause the severe, sporadic, and drug-resistant Dravet syndrome or the milder familiar GEFS + syndrome. We hypothesized that coding variants in epilepsy-associated genes could lead to other disease-related phenotypes in the general population. We selected 127 established monogenic...

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Identifiers

PMID: 36253532
DOI: 10.1038/s41431-022-01211-w
PMCID: PMC9905533

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