Detection of SCN1A gene c.530G>A and SLC6A1 gene c.863C>T mutations in families with idiopathic epilepsy

Abstract

Background: Genetics factors account for the majority of internal causes of epilepsy, and more than 500 genes associated with epilepsy have been identified. To date, mutations in genes encoding 10 different types of ion channel subunits have been shown to be involved in the development of idiopathic epilepsy. Aim: Identify SCN1A gene c.530G>A and SLC6A1 gene c.863C>T mutations in families with idiopathic epilepsy and study hereditary features. Materials and Methods: This study was conducted in cross sectional and analytical design and involved 6 individuals who diagnosed with epilepsy and 6 family members healthy with informed consent and questionnaire. In the study, mutations in the SCN1A and SLC6A1 genes were identified by taking 3 to 5 ml of whole blood from peripheral blood, extracted gDNA according to the manufacturer’s standard protocol, and amplified using specific sequences by polymerase chain reaction (PCR). The PCR product was purified and DNA nucleotide sequence was determined by the sanger method. The results of the above method were processed using the CodonCodeAligner ver.9.0.1 program. Results: The mean age of the participants was 18.6±8.2 years, and in terms of gender structure, 58% (n=7) were women and 42% (n=5) were men. Among the clinical forms of seizures, 33.3% (n=6) were partial seizures, 22.2% (n=4) were tonic-clonic, and 16.7% (n=3) were clonic seizures. Conclusion: Idiopathic epilepsy occurs in many hereditary forms. Families B, C, and F may be autosomal dominant, and families A, D, and E may be inherited as autosomal recessive. Mutations of c.530G> A (p.Gly177Glu) of the SCN1A gene and c.863C> T (p.Ala288Val) of the SLC6A1 gene were not detected in these families.