Nonsynonymous variations of ion channel-related genes as risk factors in epilepsy

Recurrent seizures are characteristic to epilepsy, which often arise due increased electrical activity. Ligand-gated ion channels considered as key factors in epilepsy they regulate and maintain neuronal membrane potential via regulating transportation. Therefore, this study aims identify channel-related single nucleotide variations that risk determine their effects on pathogenicity, protein stability structure using silico methods. For purpose, mutations linked with were retrieved from ClinVar. Pathogenicity scores predicted FATHMM-XF MUpro, respectively. Structural alterations determined HOPE server. We identified 17 epilepsy-related missense mutations, 11 of genes. Nonsynonymous substitutions p.E177A, p.D219N, p.A322D, p.R577Q, p.E282K, p.V831M p.R1072C pathogenic, while all resulted varying degrees decrease overall stability. Furthermore, variants annotated for disease introduction distinct side chains caused differences size, charge hydrophobicity, well contact other proteins ligands. In conclusion, genes previously several genetic association studies functional annotations not addressed. The results provide a explanation the pathogenic gene epilepsy.