Association between idiopathic generalized epilepsy and EFHC1 gene mutations of 662 G>A and 685 T>C; [İdiyopatik Jeneralize Epilepsi ile EFHC1 Genindeki 662 G>A ve 685 T>C Mutasyonu Arasındaki İlişkinin Araştırılması]

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dc.contributor.authorBüyük I.
dc.contributor.authorTuǧrul B.
dc.contributor.authorYilmaz H.
dc.contributor.authorOnur E.
dc.contributor.authorVatandaş G.
dc.contributor.authorDoǧan BozyIǧIt F.
dc.date.accessioned2024-07-22T08:19:44Z
dc.date.available2024-07-22T08:19:44Z
dc.date.issued2012
dc.description.abstractObjective: Idiopathic generalized epilepsy (IGE) is an epilepsy form without an underlying brain lesion or neurological indication or symptom. Recent investigations on the genetic origins of IGE and its subtypes report that certain mutations of various ion and non-ion channel genes in the central nervous system may be associated with IGE. Among these mutations, the ones related to the non-ionic channel gene EFHC1 are controversial (545G>A, 685T>C, 628G>A 757G>T, 229C>A, 662G>A, 520A>G, 776G>A, 829C>T). In this study we investigated the relationship between IGE and 662G>A (R221H) and 685T>C (F229L) mutations in EFHC1 gene in a Turkish population. Material and Methods: The study enrolled 96 healthy volunteers (47 male, 49 female) and 96 IGE patients (41 male, 55 female). IGE diagnosis was confirmed in the neurology department. After venous blood sampling, DNA extractions were performed. The presence of 662G>A (R221H) and 685T>C (F229L) mutations in the exon 4 of EFHC1 gene were analyzed using Real-Time polymerase chain reaction (PCR) (Cobas, Roche Diagnostics, Germany). The results of the control and patient groups were compared statistically. Results: In the patient group there was one heterozygous male with 685T>C mutation. In the control group, there were two subjects with 685T>C mutation; one heterozygous male and one heterozygous female. The control and the patient groups did not have the 662G>A mutation. The difference between the patient and the control groups were not significant (p value for 685 T>C mutation=0.56062; p value for 662G>A mutation=1.00). Conclusion: We found no evidence that EFHC1 is a major genetic factor for the development of IGE in Turkish patients. Our results indicated that 685T>C and 662G>A mutations might not be associated with IJE. © 2012 by Türkiye Klinikleri.
dc.identifier.DOI-ID10.5336/medsci.2011-25681
dc.identifier.issn13000292
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/17818
dc.language.isoEnglish
dc.publisherTurkiye Klinikleri
dc.rightsAll Open Access; Hybrid Gold Open Access
dc.subjectamino acid substitution
dc.subjectarticle
dc.subjectcontrolled study
dc.subjectdisease association
dc.subjectDNA extraction
dc.subjectEFHC1 gene
dc.subjectexon
dc.subjectfemale
dc.subjectgene
dc.subjectgene mutation
dc.subjectgeneralized epilepsy
dc.subjectgenetic analysis
dc.subjectgenetic association
dc.subjectheterozygosity
dc.subjecthuman
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmutational analysis
dc.subjectreal time polymerase chain reaction
dc.titleAssociation between idiopathic generalized epilepsy and EFHC1 gene mutations of 662 G>A and 685 T>C; [İdiyopatik Jeneralize Epilepsi ile EFHC1 Genindeki 662 G>A ve 685 T>C Mutasyonu Arasındaki İlişkinin Araştırılması]
dc.typeArticle

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