Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Sarah E HeronBrigid M ReganRebekah V HarrisAlison E GardnerMatthew J ColemanMark F BennettBronwyn E GrintonKatherine L HelbigMichael R SperlingSheryl HautEric B GellerPeter Widdess-WalshJames T PelekanosMelanie BahloSlavé PetrovskiErin L HeinzenMichael S HildebrandMark A CorbettIngrid E SchefferJozef GeczSamuel Frank BerkovicPublished in: Neurology (2021)
Missense variants in SLC32A1 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 SLC32A1 variants.