GENETIC EPILEPSY WITH FEBRILE SEIZURES PLUS CAUSED BY SCN1A GENE MUTATION: A FAMILY REPORT AND LITERATURE REVIEW

GENETIC EPILEPSY WITH FEBRILE SEIZURES PLUS CAUSED BY SCN1A GENE MUTATION: A FAMILY REPORT AND LITERATURE REVIEW

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Objective To summarize the clinical features and treatment of genetic epilepsy with febrile seizures plus (GEFS+) caused by SCN1A gene mutations, to improve the understanding of SCN1A gene mutations, and to provide a basis for the clinical diagnosis and treatment of this disease.Methods Clinical data were collected from pomyslnaszycie.com a child with GEFS+ and her family members who attended Department of Neurology in our hospital, and the third-generation gene sequencing technique was used to perform genetic analysis and validation of peripheral blood DNA of the child and her parents and aunt.Results A girl, aged 7 years, was admitted to the hospital due to "paroxysmal seizures lasting for more than 4 years", with loss of consciousness during seizures and more seizures during pyrexia.The seizures increased after the use of oxcarbazepine and were controlled after the admi-nistration of sodium valproate.

Her father had a history of seizures, while her aunt had no clinical symptoms.Third-generation gene sequencing showed the same heterozygous mutation, c.4787G>A(p.R1596H), in the SCN1A gene in the child and her father and aunt.

Conclusion The onset of GEFS+ is associated with SCN1A gene mutations, sequal eclipse 5 battery but there is heterogeneity in clinical manifestations among patients in one family, and sodium channel blockers as anti-epileptic drugs will aggravate epileptic seizures in GEFS+.