Epilepsy Combined With Multiple Gene Heterozygous Mutation

The fast pace of gene discovery has resulted in groundbreaking advances in the field of epilepsy genetics. Clinical testing using comprehensive gene panels, exomes, or genomes is now increasingly available and has significantly increased the diagnostic yield for early-onset epilepsies and enabled precision medicine approaches. In this paper, we report a case of epilepsy in a pedigree. The proband had heterozygous mutations in (NM_001112741.1:c.959G>A, p. Arg320His), (NM_000070.2:c.526G>A, p. Val176Met), and (NM_021076.3:c. 2595 delC, p. Lys866Argfs 51). Sanger sequencing verification was consistent with the results of whole-exome sequencing. The mutation was a mutation, and the and mutations were inherited from their father and mother, respectively. Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, a heterozygous mutation was found for (NM_000384.2: c.10579C > T, p. Arg3527Trp). The heterozygous mutation at this site was inherent in the pedigree. Coexpression analysis indicated that heterozygous mutations of , and were closely related to the clinical phenotypes of the patient, and the clinical phenotypic heterogeneity of the disease may be the result of the interaction of multiple genes.