Rare missense variants found in families with genetic epilepsy with febrile seizures plus

Takeaway

  • 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.