Evidence map›Paper›PMID 41146305›Full record

ArticleEuropean journal of medical research2025

Association of GABRG2 gene polymorphisms with idiopathic generalized epilepsy in Egyptian children: a case-control study.

Yahya Wahba, Doaa Shahin, Abdel-Hady El-Gilany, Sohier Yahia, Nora El-Tantawy, Mohamed Khodair, Hanan Sherbiny, Hanaa Khalil, Khadeja Soheeb

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Article in European journal of medical research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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5 · Who and what money

Authors and funding

9 authors.

Yahya WahbaDepartment of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Doaa ShahinClinical Haematology Unit, Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Abdel-Hady El-GilanyDepartment of Public Health, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Sohier YahiaDepartment of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt. sohier_yahia@mans.edu.eg.
Nora El-TantawyDepartment of Public Health, Applied Medical Sciences Faculty, Al-Baha University, Al-Baha, Saudi Arabia.
Mohamed KhodairDepartment of Neuropsychiatry, Faculty of Medicine, October 6 University, Giza, Egypt.
Hanan SherbinyDepartment of Child Health, Faculty of Medicine, Bisha University, Bisha, Saudi Arabia.
Hanaa KhalilDepartment of Pediatrics, Elmam AbdElRhman ElFaisal Hospital, Riyadh, Saudi Arabia.
Khadeja SoheebDepartment of Pediatrics, Faculty of Medicine, Zawia University, Zawia, Libya.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe GABRG2 gene polymorphisms C588T and 3145G>A could be predictive genetic markers that trigger idiopathic generalized epilepsy (IGE) or predict pharmaco-resistance to antiseizure medications (ASMs).

methodsThis case‒control study enrolled 85 children, including 34 patients with IGE who were responsive to ASMs (responsive group), 30 patients with IGE who were resistant to ASMs (resistant group), and 21 healthy children (control group). All participants were assessed for the GABRG2 C588T and GABRG2 3145G>A gene polymorphisms via polymerase chain reaction (PCR).

resultsThe CC genotype of the GABRG2 polymorphism was the most commonly reported genotype. The CT and TT genotypes were more frequently associated with epileptic patients than with controls. The T allele and the T-included genotypes were more common among epileptic patients than controls. Regarding the GABRG2 _3145G>A polymorphism, the AG genotype was the most frequent among the study groups. The GG phenotype was more common among epileptic children than in controls. The G allele and G-included genotypes were significantly associated with epilepsy (p = 0.02), with a 3.2-fold higher risk of occurrence of epilepsy for the G allele carriers. A statistically insignificant difference in the distribution of different genotypes and C & T alleles of the GABRG2 C588T polymorphism was detected between the ASMs-responsive and the ASMs-resistant subgroups. However, the TT genotype was more common in the ASMs-resistant subgroup (10% vs. 3%). The GABRG2_3145G>A polymorphism appeared to be a prognostic determinant of ASMs responsiveness; the GG genotype was significantly associated with poor control of seizure activity (47% vs. 24%, p = 0.05). The G-included genotypes were significantly associated with ASMs resistance (76% vs. 53%, p = 0.05).

conclusionsThe T allele and TT genotype of the GABRG2 C588T gene were more common among patients with IGE, whereas the G allele and the GG genotype of the GABRG2 3145G>A gene may be significant predictors of ASMs resistance among IGE patients. Results validation in larger, multi-center studies across diverse populations is recommended.

Indexed as

Epilepsy, GeneralizedPolymorphism, Single NucleotideReceptors, GABA-AAdolescentAllelesAnticonvulsantsCase-Control StudiesChildChild, PreschoolEgyptFemaleGenetic Predisposition to DiseaseGenotypeHumansMaleAnticonvulsantsGABRG2 protein, humanReceptors, GABA-AGABRG2 3145G>AGABRG2 C588TIdiopathic generalized epilepsyPolymorphism

Identifiers

PMID41146305
PMCPMC12557838

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