Abstract
The α subunit of voltage-gated sodium channels in mammals is encoded by nine different genes, and the mutations in the SCN1A, SCN2A, SCN3A and SCN8A genes highly expressed in the CNS have been associated with epilepsy phenotypes. This study aimed at investigating the frequency of SCN1A gene mutations in DS and GEFS+ spectrum phenotype cases and discussing the molecular results in the context of genotype-phenotype correlation. 15 patients diagnosed with DS and 54 patients meeting the GEFS+ spectrum criteria were included in this study. All patients were evaluated by next-generation sequencing (NGS) method using a SCN1A gene commercial kit. A total of 17 different variants were detected in 18 index cases (26%) as a result of sequencing of the SCN1A gene. Note that 7 of the total 17 different variations (p.M1R, p.M147T, p.I767L, p.N1391Ifs *5, p.R1886G, p.E1915G, p.R1933Q) were novel variations. Of the 18 cases with variation in the SCN1A gene, 12 had DS and 6 had GEFS+ phenotype. The variations were de novo in all DS cases and in one case with a GEFS+ phenotype; in 5 GEFS+ cases, it was inherited from the affected parent. This study contributed to the mutation spectrum with the novel variations detected in cases with DS and GEFS+ phenotype. SCN1A genetic analysis can help in determining antiepileptic drugs to be selected or avoided in cases with mutations. The elucidation of the molecular etiology makes it possible to provide the family with effective genetic counseling for future pregnancies.
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