Annals of Indian Academy of Neurology
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ORIGINAL ARTICLE
Year : 2016  |  Volume : 19  |  Issue : 2  |  Page : 236-241

Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population


1 Center for Excellence in Epilepsy, A joint National Brain Research Centre-All Institute of Medical Sciences Collaboration, National Brain Research Centre, Manesar, Haryana, India
2 Department of Neurosurgery, All Institute of Medical Sciences, New Delhi, India
3 Department of Neurology, All Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Sarat P Chandra
Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi - 110 001
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.182304

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Aim: This study is focused on GABRG2 gene sequence variations in patients with mesial temporal lobe epilepsy (mTLE). The GABAAreceptor is a heteropentameric receptor and alpha-1 beta-2 gamma-2 subunits combination is most abundant and present in almost all regions of the brain. The gamma-2 subunit (GABRG2) gene mutations have been reported in different epilepsy pathologies. In the present study we have looked for GABRG2 gene sequence variations in patients with mTLE. Materials and Methods: Twenty patients (12 females and eight males, age 4.6-38 years) with MTLE were recruited for this investigation. Patients were recommended for epilepsy surgery after all clinical investigations as per the epilepsy protocol. Ethnically matched glioma or meningioma patients were considered as nonepileptic controls. During temporal lobectomy of amygdalohippocampectomy, hippocampal brain tissue samples were resected guided by intraoperative electrocorticography (ECoG) activity. All 11 exons of GABRG2 gene with their flanking intronic regions were amplified by polymerase chain reaction (PCR) and screened by DNA sequencing analysis for sequence variations. Statistical Analysis Used: Comparison of allele frequencies between patient and control groups was determined using a c2 test. Results and Conclusions: Total five DNA sequence variations were identified, three in exonic regions (c.643A > G, rs211035), (c.T > A, rs424740), and (c.C > T, rs418210) and two in intronic regions (c.751 + 41A > G, rs211034) and (c.751 + 52G > A, rs 34281163). Allele frequencies of variants identified in this study did not differ between patients and normal controls. Thus, we conclude that GABRG2 gene may not be playing significant role in the development of epilepsy or as a susceptibility gene in patients with MTLE in Indian population.


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