Rare missense variants found in families with genetic epilepsy with febrile seizures plus
Rare pathogenic variants in SLC32A1 are a genetic cause of genetic epilepsy with febrile seizures plus and idiopathic generalized epilepsy.
Why this matters
These novel data support the hypothesis that genetic variants leading to impaired GABAergic transmission are a major cause of genetic epilepsy with febrile seizures plus and idiopathic generalized epilepsy. These findings provide a rationale for further investigation of the genotype-phenotype spectrum associated with SLC32A1 variants that could facilitate diagnosis and prognosis in affected individuals.