[Analysis of gene mutation and clinical characteristics in patients with idiopathic epilepsy]

Objective: To explore the association between gene mutations and clinical characteristics in Chinese patients with epilepsy. Methods: A total of twenty-three patients with idiopathic epilepsy admitted to the Xuanwu Hospital of Capital Medical University from January 2014 to July 2016 were included.The age at onset of epilepsy ranged from 8 months to 31 years.All patients were screened for mutations by next-generation of sequencing (NGS), using a targeted capture panel of epilepsy and related seizures to screen forgene causative for or related to epilepsy.Some mutations were verified for inheritance by Sanger sequencing of two generations in the family.The differences in clinical characteristics among different mutation carriers were compared. Results: A total of 38 mutations were identified in 23 patients.Most of the patients presented with tonic-clonic seizures, and most were not accompanied by mental retardation.Causative genes were dominated by those encoding ion channel, enzyme and proteins with special functions.Although mutation carriers for genes encoding ion channel proteins and those with special functions were not significantly different in age at onset, types of seizure, family history or complications(P>0.05), patients presenting with tonic-clonic seizures had higher frequency of mutations in genes encoding ion channel (15/15)than those encoding proteins with special function(16/20)(P=0.066). Conclusions: NGS is a useful technology in detecting mutations in patients with various types of epilepsy and aiding in etiological diagnosis of the disease.Tonic-clonic seizures may correlate with mutations in genes encoding ion channel.