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

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...

Full description

Saved in:
Bibliographic Details
Published in:Seizure (London, England) England), 2024-01, Vol.114, p.79-83
Main Authors: Aslan-Kara, Kezban, Dündar-Yenilmez, Ebru, Ateş, Elçin, Alparslan, Mustafa Muhlis, Peköz, Taylan, Bozdemir, Hacer, Tuli, Abdullah
Format: Article
Language:English
Subjects:
3' Untranslated Regions
Adolescent
Adult
Calcium-Binding Proteins - genetics
Cohort Studies
Humans
Middle Aged
Mutation - genetics
Myoclonic Epilepsy, Juvenile - diagnosis
Turkey - epidemiology
Young Adult
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. 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. 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 
ISSN:1059-1311
1532-2688
DOI:10.1016/j.seizure.2023.12.002