Abstract:

Objective To investigate the influence of missense mutations in the SLC32A1 gene on hereditary epilepsy with febrile seizures plus (GEFS+). Methods Clinical data of a child with GEFS+ caused by the SLC32A1 gene mutation were retrospectively analyzed, and relevant literatures were reviewed. Results A boy with 1 and a half year old presented with recurrent febrile seizures for three times and febrile seizures twice. Two months ago, the child experienced two episodes of febrile seizures due to upper respiratory tract infection, with a temperature of 38.3 ℃. Tonic-clonic convulsions occurred and lasted 1-3 minutes, which were resolved spontaneously. He then experienced another episode of febrile seizure. One week ago, the child experienced two episodes of febrile seizures without an obvious cause, manifesting as tonic-clonic seizures. No abnormalities were found in electroencephalography and cranial magnetic resonance imaging. His father had one episode of febrile convulsion at the age of 1 year, and the remaining family members denied history of convulsions. The child was the first newborn of his mother and he did not experience hypoxia and asphyxia at delivery, with normal growth and development after birth. Full-exon sequencing showed one heterozygous variant with unknown significance in the SLC32A1 gene: c.1184C>T (p.Pro395Leu), indicating a missense variant. Conclusion SLC32A1 gene mutation is associated with GEFS+, and the phenotypic consistency of the tested subjects is relatively high. Literature review to determine its relevance to GEFS+ contributes to discover new gene profiles of GEFS+ and facilitates genetic counseling.

Key words: shereditary epilepsy with febrile convulsion addition, SLC32A1 gene, convulsions