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Article

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

Seizure - 1 Jan 2024

Aslan-Kara Kezban, Dündar-Yenilmez Ebru, Ateş Elçin, Alparslan Mustafa Muhlis, Peköz Taylan, Bozdemir Hacer, Tuli Abdullah

Abstract excerpt

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...

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Identifiers

PMID: 38088014
DOI: 10.1016/j.seizure.2023.12.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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