Association between ELP4 gene rs986527 polymorphisms and susceptibility of benign childhood epilepsy with centro-temporal spikes

Abstract

Objective To investigate the relationship between the ELP4 gene rs986527 polymorphism and increased susceptibility towards benign childhood epilepsy with centro-temporal spikes (BECT), and to reveal its pathogenesis and its outlook on clinical characteristics, electroencephalographic (EEG) features and prognosis. Methods Ninety-five patients with BECT were enrolled as study subjects from Qilu Hospital of Shandong University with consent of patients and their guardians.Their clinical data were compiled and peripheral venous blood was collected.Genotyping of ELP4 gene rs986527 in 95 patients with BECT and 102 healthy individuals was conducted using the polymerase chain reaction(PCR) and gene sequencing methods, and the difference loci frequency of ELP4 gene rs986527 polymorphism distribution to BECT patients and healthy controls were observed. Results BECT was commonly prevalent du-ring childhood, presenting as partial seizures or partial seizures with secondary generalized seizures during sleep.EEG examinations displayed normal activities, and the epileptic discharges were mainly localized to central and temporal regions, while the sleep EEG also showed aberrant electrical discharges.Neuroimaging findings were generally normal.Most of the patients were sensitive to anti-epilepsy drugs (AEDs). No statistical difference was evident regarding the gene frequency of ELP4 gene rs986527 polymorphism site between BECT group and the control group(P=0.29, OR=1.24, 95% CI: 0.83-1.84). Conclusion The ELP4 gene rs986527 polymorphism has no correlation with BECT susceptibility. Key words: Epilepsy; Polymorphisms; ELP4 gene