EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk

Objectives Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy with an important genetic component. This cohort study aimed to examine the frequency of EFHC1 gene variants in Turkish JME patients and a healthy control group and evaluate the association between these mutations and disease risk. Methods We screened 72 JME patients with a mean age of 31.8 ± 9.9 (20-65) years and 35 controls with a mean age of 29.1 ± 7.6 (17-50) years from southern Turkey using direct sequencing analyses. Results EFCH1 single nucleotide variants were detected in 24 of 72 JME patients and 3 of 35 controls. The most common mutations were R182H in JME patients (p=0.010) and 3′UTR in the control group (p<0.001). The R182H mutation is a common variant in JME (95% CI: 1.232-76.580, p=0.031) and the 3′UTR mutation may be associated with lower risk of JME in the Turkish population (95% CI: 13.89-166.67, p<0.001). Significance Our results indicate that EFHC1 gene variants carry a risk for JME and the 3′UTR variant may have a protective role against JME in the Turkish population. Screening for other genes is needed to further clarify the genetic inheritance of JME in Turkish patients.