SLC6A1 Gene Mutation Caused Epilepsy with Myoclonus-Atonic Seizures: A Case Report Clinical Characteristics and Genetic Analysis - Abstract
Objective: To analyze the clinical and genetic characteristics of a child with epilepsy and myoclonus-atonic seizures caused by SLC6A1 gene variation. Methods: The clinical and electroencephalogram characteristics of a male child with epilepsy and myoclonus-atonic seizures were analyzed. Peripheral blood was collected to extract DNA for medical whole exon gene sequencing. The proband underwent high-throughput sequencing, and the parents underwent Sanger verification to identify gene mutation sites and analyze the relationship between genotype and phenotype. Results: Male children, before the onset of mental language development lag behind, 1,2 months hot convulsions, 2 years 9 months in seizures, seizure form including the general stiffness matrix cramps seizure, myoclonic seizures and myoclonus loss of tension, and accompanied by inattention, hyperactivity, giving left b raschig 50 mg/kg/d treatment, nearly 8 months without seizures. The results of genetic testing showed that the SLC6A1 gene c.263T>C (p.L88p) heterozygous missense mutation was a spontaneous mutation, which has not been reported in the literature. Conclusion: SLC6A1 gene mutation is one of the causes of epilepsy with myoclonic dystonic seizures and neurological abnormalities. The detection of new variants enriched the variation spectrum of SLC6A1 gene.