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.
It is likely that brain electrical function monitoring will play an increasingly important role in evaluating prognosis of coma in children.Aim: To compare the predictive values of clinical examinations combined with the recordings of Electroencephalography (EEG) and Brainstem Auditory-Evoked Potentials (BAEP) and computed tomography (CT) of the brain in the evaluation of coma outcome in children.Methods: Twenty children with coma aged 3-14 years were included in the study and subjected to: full history, clinical, neurological and otological examination. Medical investigations for coma, EEG, CT brain and auditory brainstem evoked potential (BAEP) measurements were performed for all patients. They were subdivided into 2 groups: group 1 included 8 patients with surgical causes of coma, group 2 include 12 patients with medical causes of coma.Results: There was younger age, lower Glasgow Coma Scale (GCS) and more significant incidence of unfavourable outcome (death, disability) in patients of surgical coma (group 1). A significant difference between both groups was observed regarding the presence of brain edema and intracranial hemorrhage (100% in group 1) while normally visualized basal cisterns were significantly more in group (2) (p=0.02). Favourable outcome was strongly related to normally visualize basal cisterns in CT brain (p=0.002), normal/ borderline EEG activity (p=0.03) and normal BAEP waves (p=0.009). Disability was significantly related to slow activity waves (p=0.015) and diffuse high voltage EEG discharges (0.009). While mortality was significantly related to the presence of intracranial bleeding in CT brain (p=0.02), silence EEG waves (p=0.005) and absent BAEP waves (0.012).
Conclusion:EEG and Auditory brainstem response are valuable as prognostic predictors of pediatric coma either due to medical or surgical causes. The Glasgow Coma Scale (GCS) has several important limitations as a predictor of survival in the general critically ill population while CT brain is mostly important for diagnostic rather than prognostic factor in comatosed children.
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