Article
Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.
Epilepsy research - 1 Feb 2023
Badura-Stronka Magdalena, Kuszel Łukasz, Wencel-Warot Agnieszka, Cudnoch Kamila, Wołyńska Katarzyna, Rutkowska Karolina, Steinborn Barbara, Płoski Rafał
Abstract excerpt
Missense variants in the synaptic vesicle glycoprotein SV2A gene have been previously found in a few individuals with epilepsy. Adverse reaction to levetiracetam in individuals with various variants of this gene has recently been described. Here, we report on a family with several members affected by epilepsy. In affected members of this family, we identified a variant in the SV2A gene (NM_014849.5: c.1978 G>A,...
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