A case of infantile epilepsy with SCN8A gene variation as the first symptom of convulsion and literature review
He Chunyan
Yan Xiaohua
Li Hongyan
Wang Jieying
Guo Xiangyang
Abstract：Epilepsy is a group of chronic brain diseases.This article summarizes the clinical data,whole exome sequencing test results,diagnosis and treatment process of a 4-month-old boy with epilepsy with SCN8A gene variation who was admitted to Shaanxi Provincial People's Hospital and presented with seizures as the first symptom.The child was admitted to the hospital due to"paroxysmal seizures for half a day".After admission,the child still had recurrent seizures,and the brain magnetic resonance imaging and video electroencephalogram were normal.The whole exome sequencing test report shows that:SCN8A,chr12:52184185;c.4223G＞A(p.Gly1475Arg)variation.After the treatment with antiepileptic drugs,the symptoms were relieved.Combined with the relevant literature review,we believe that for infants less than 6 months of age with unexplained seizures,routine examination results can not identify the cause,gene sequencing should be actively improved to help the diagnosis,to provide ideas for the development of precise treatment plans,and to provide help for family genetic counseling.
Keywords：EpilepsySCN8A geneConvulsion
Publication Date：2025-05-18
Online Publishing Date：2026-09-14(First online date of this platform, not the publication date of the document)
Pages：3( 759-761 )