title: GABRG2 gene polymorphisms in Egyptian children with simple febrile seizures.
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.
authors: Department of Pediatrics, Faculty of medicine, Zagazig University, Zagazig, Egypt. drsanaa74@yahoo.com
authors: Sanaa M Abdel
authors: SM
authors: Salam
authors: Hadeel M A
authors: HM
authors: Rahman
authors: Rehab A
authors: RA
authors: Karam
mesh_terms: D054458:Amplified Fragment Length Polymorphism Analysis; D016022:Case-Control Studies; D002675:Child, Preschool; D004534:Egypt; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D016017:Odds Ratio; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011963:Receptors, GABA-A / Q000235:genetics*; D003294:Seizures, Febrile / Q000235:genetics*
chemical_list: C546279:GABRG2 protein, human; D005819:Genetic Markers; D011963:Receptors, GABA-A