Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

Abstract

Missense variants in <i>SLC32A1</i> cause GEFS+ and IGE. These variants are predicted to alter γ-aminobutyric acid (GABA) transport into synaptic vesicles, leading to altered neuronal inhibition. Examination of further epilepsy cohorts will determine the full genotype-phenotype spectrum associated with <i>SLC32A1</i> variants.