GABRG2 Gene Polymorphisms in Egyptian Children with Simple Febrile Seizures

Salam, Sanaa M. Abdel; Rahman, Hadeel M.A.; Karam, Rehab A.

doi:10.1007/s12098-011-0564-0

Cited by 23 publications

(27 citation statements)

References 9 publications

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“…Similarly, in a case-control study with 100 patients and 120 healthy controls, it was suggested that the same allele could be a suitable genetic marker for prediction of susceptibility to FS in Egyptian children. [29] However, the same has not been replicated in other populations, Japan [30] and United Kingdom (UK). [23] The allele and genotype frequencies of GABRG2 rs211037 show wide variation across different populations worldwide, suggesting a role for ethnic differences in the distribution of this genetic variant.…”

Section: Discussionmentioning

confidence: 99%

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Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population

Gitaí¹,

Almeida²,

Born³

et al. 2012

Neurol India

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Section: Discussionmentioning

confidence: 99%

“…JME = Juvenile myoclonic epilepsy, OR = Odds ratio, CI = Confidence interval, AIC = Akaike's information criterion, BIC = Bayesian information criterion TT carriers, with 41,8% and 39,75%, respectively, are more represented than CC carriers. [22,24,29] In Japan, the homozygous carriers (TT and CC) showed a similar frequency of around 25%.…”

Section: Discussionmentioning

confidence: 99%

Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population

Gitaí¹,

Almeida²,

Born³

et al. 2012

Neurol India

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“…In developing countries urban referral hospital having lot of patients with A febrile fits caused by hypocalcaemic. [14][15] Cetinkaya document that this hypocalcaemia is associated with nutritional intake of calcium and other micro and macronutrient Deficiencies. 16 Humayun et al conduct a study which shows that low socioeconomic, maternal education, exposure to sunlight and large family size are important risk factor for vit-D Deficiencies.…”

Section: Study Done By 12 Alber Et Al Repented That 65%mentioning

confidence: 99%

Afebrile Seizures;

Rehman

Bajwa

Mushtaq

et al. 2019

TPMJ

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Background: Seizures are the most common neurologic emergency in pediatrics and can be terrifying for patients and families. They occur in approximately 4-10% of children and account for 1% of all emergency department visits. There are a variety of potential causes for seizures; however, they have a final common pathway which includes abnormal electrical discharges of neurons. The extent of this abnormal discharges and their location in the brain leads to a variety of clinical presentation which range from subtle, non-convulsive events to dramatic generalized convulsions. Most common biochemical abnormality causing seizures is hypocalcemia, which in children may manifest astetany, seizures, muscle cramp, and paresthesia. Objectives: The objective of the study was to: determine the frequency of hypocalcaemia in children presenting with afebrile seizures from age 2 months to 2 years. Study Design: Descriptive cross sectional study. Settings: Pediatric emergency and outpatient department of Pediatric Medicine Unit 1, Independent University Faisalabad. Period: Six months from 01.01.2018 to 30.06.2018. Methodology: After Approval from Ethical committee, 86 children presenting in pediatric emergency of Independent Hospital Faisalabad who meet the inclusion criteria were enrolled in this study. Detailed history and informed consent was obtained from parents of each patient presenting with first episode of afebrile seizure. Blood serum sample was sent to the hospital pathology laboratory for assessment of serum calcium. Routine investigations to rule out other causes of seizures were also done. All the data was recorded on a predesigned performa. Inclusion and exclusion criteria were strictly followed. Results: In this study, out of 86 cases, 55%(n=47) were between 2-12 months of age and 45%(n=39) were between 13-24 months of age, mean+sd was calculated as 12.33+5.27 months, maternal age shows that 72.24%(n=58) were between 18-30years of age and 30.76%(n=29) were between 31-45years of age, mean+sd was calculated as 29.52+3.70 years, 52.38%(n=44) were male and 47.62%(n=42) were females, frequency of hypocalcaemia in children presenting with afebrile seizures from age 2 months to 2 years was recorded in 66.48%(n=56) cases. Conclusion: We concluded that the frequency of hypocalcaemia is higher in children presenting with afebrile seizures from age 2 months to 2 years, and by controlling hypocalcemia, we may reduce the risk of seizures.

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“…This silent single nucleotide polymorphism (SNP) is located within exon 5. Some reports demonstrated association between this SNP and susceptibility to FS, epilepsy, and idiopathic generalized epilepsy (IGE), but the remaining studies did not support this finding [14][15][16][17][18][19][20][21][22]. Further metaanalysis of eight studies from Asian and Caucasian populations proposed the probable involvement of this locus in the pathogenesis of FS [23].…”

Section: Introductionmentioning

confidence: 96%

Contribution of GABRG2 Polymorphisms to Risk of Epilepsy and Febrile Seizure: a Multicenter Cohort Study and Meta-analysis

et al. 2015

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Gamma-aminobutyric acid receptor (GABA-A) is the most common receptor of fast synaptic inhibition in the human brain. Gamma protein encoded by the GABRG2 gene is one of the subunits of the GABA-A receptor, which plays an essential role in the function of this receptor. Several studies have identified various febrile seizure (FS) and epilepsy risk variants of GABRG2 gene in different populations, but some others did not support these results. The aim of this case-control study is to investigate whether GABRG2 polymorphisms contribute to susceptibility for FS and epilepsy in pooled data of three cohorts, from Malaysia (composed of Malay, Chinese, and Indian), Hong Kong, and Korea. Furthermore, the pooled dataset of these cohorts with previous reports were meta-analyzed for determining the risk effect size of the rs211037 polymorphism on FS and symptomatic epilepsy (SE). The rs211037, rs210987, rs440218, rs2422106, rs211014, and rs401750 polymorphisms were genotyped in the 6442 subjects (1729 epilepsy and 4713 controls). Results of the case-control study showed associations between rs211037 and the risk of SE in the pooled data from all cohorts (T vs. C, p = 3 × 10(-5), and TT vs. CC, p = 2 × 10(-5)) and the risk of partial seizure in the combined data of Malaysia and Hong Kong (both T vs. C and TT vs. CC, p = 2 × 10(-6)). The rs211037-rs210987 and rs2422106-rs211014-rs401750 haplotypes were also associated with susceptibility to SE in Chinese. Meta-analysis of all Asians identified association between rs211037 and FS and SE (T vs. C, p = 4 × 10(-4), and p = 4 × 10(-3), respectively). In conclusion, rs211037 alone may be a risk factor for FS, partial seizure, and SE, and in linkage disequilibrium with rs210987 can contribute to FS and SE in Asians, particularly in Chinese.

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GABRG2 Gene Polymorphisms in Egyptian Children with Simple Febrile Seizures

Cited by 23 publications

References 9 publications

Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population

Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population

Afebrile Seizures;

Contribution of GABRG2 Polymorphisms to Risk of Epilepsy and Febrile Seizure: a Multicenter Cohort Study and Meta-analysis

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