Article
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population - European Journal of Human Genetics
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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.
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