» Articles » PMID: 21983990

GABRG2 Gene Polymorphisms in Egyptian Children with Simple Febrile Seizures

Overview
Specialty Pediatrics
Date 2011 Oct 11
PMID 21983990
Citations 9
Authors
Affiliations
Soon will be listed here.
Abstract

Mutations in the gamma-aminobutyric acid type A receptor (GABRG2) gene have been associated with generalized epilepsy, childhood absence epilepsy and febrile seizures. In the present study the authors investigated the association of polymorphism of the GABRG2 with simple febrile seizures (FS) in Egyptian children. Polymorphism at GABRG2 (SNP211037, Asn196Asn), on chromosome 5q33 were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 100 Egyptian children with simple FS, and 120 healthy controls. The frequency of CC genotype of GABRG2 gene was significantly higher in children with simple FS compared to healthy children (p  ≤  0.0001). The C allele of GABRG2 was associated with increased risk for developing simple FS (OR: 2.15. 95% CI, 1.4-3.2. p  ≤  0.0001). The present findings suggested that the GABRG2 (SNP211037)-C allele could be a suitable genetic marker for prediction of susceptibility to simple FS in Egyptian children.

Citing Articles

Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort.

Saleem T, Maqbool H, Sheikh N, Tayyeb A, Mukhtar M, Ashfaq A Biomed Res Int. 2022; 2022:3460792.

PMID: 36425336 PMC: 9681559. DOI: 10.1155/2022/3460792.


Phenotypic Spectrum and Prognosis of Epilepsy Patients With Variants.

Yang Y, Niu X, Cheng M, Zeng Q, Deng J, Tian X Front Mol Neurosci. 2022; 15:809163.

PMID: 35359574 PMC: 8964129. DOI: 10.3389/fnmol.2022.809163.


Impact of GABA receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.

Amjad M, Tabassum A, Sher K, Kumar S, Zehra S, Fatima S Neurol Sci. 2022; 43(7):4431-4438.

PMID: 35150350 DOI: 10.1007/s10072-022-05947-7.


A Review of Febrile Seizures: Recent Advances in Understanding of Febrile Seizure Pathophysiology and Commonly Implicated Viral Triggers.

Sawires R, Buttery J, Fahey M Front Pediatr. 2022; 9:801321.

PMID: 35096712 PMC: 8793886. DOI: 10.3389/fped.2021.801321.


Genetic Polymorphism of rs211037 is Associated with Drug Response and Adverse Drug Reactions to Valproic Acid in Chinese Southern Children with Epilepsy.

Lu J, Xia H, Li W, Shen X, Guo H, Zhang J Pharmgenomics Pers Med. 2021; 14:1141-1150.

PMID: 34552348 PMC: 8450188. DOI: 10.2147/PGPM.S329594.


References
1.
WALLACE R, Marini C, Petrou S, Harkin L, Bowser D, Panchal R . Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001; 28(1):49-52. DOI: 10.1038/ng0501-49. View

2.
Chou I, Lee C, Tsai C, Tsai Y, Wan L, Hsu Y . Association of GABRG2 polymorphisms with idiopathic generalized epilepsy. Pediatr Neurol. 2006; 36(1):40-4. DOI: 10.1016/j.pediatrneurol.2006.09.011. View

3.
Hales T, Tang H, Bollan K, Johnson S, King D, McDonald N . The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors. Mol Cell Neurosci. 2005; 29(1):120-7. DOI: 10.1016/j.mcn.2005.01.002. View

4.
. Neurodiagnostic evaluation of the child with a simple febrile seizure. Pediatrics. 2011; 127(2):389-94. DOI: 10.1542/peds.2010-3318. View

5.
Mollah M, Dey P, Tarafdar S, Akhter S, Ahmed S, Hassan T . Zinc in CSF of patients with febrile convulsion. Indian J Pediatr. 2002; 69(10):859-61. DOI: 10.1007/BF02723706. View