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Volumn 23, Issue 11, 2013, Pages 605-610

GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures

Author keywords

Antiepileptic drug resistance; Epilepsy; GABRG2; Hippocampal sclerosis; Juvenile myoclonic epilepsy; Temporal lobe epilepsy

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; ANTICONVULSIVE AGENT;

EID: 84886601313     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0000000000000000     Document Type: Article
Times cited : (43)

References (34)
  • 1
    • 68849120728 scopus 로고    scopus 로고
    • Challenges in the management of epilepsy in resourcepoor countries
    • Radhakrishnan K. Challenges in the management of epilepsy in resourcepoor countries. Nat Rev Neurol 2009; 5: 323-330.
    • (2009) Nat Rev Neurol , vol.5 , pp. 323-330
    • Radhakrishnan, K.1
  • 3
    • 84862314830 scopus 로고    scopus 로고
    • Patterns of treatment response in newly diagnosed epilepsy
    • Brodie M, Barry S, Bamagous G, Norrie J, Kwan P. Patterns of treatment response in newly diagnosed epilepsy. Neurology 2012; 78: 1548-1554.
    • (2012) Neurology , vol.78 , pp. 1548-1554
    • Brodie, M.1    Barry, S.2    Bamagous, G.3    Norrie, J.4    Kwan, P.5
  • 4
    • 3042798891 scopus 로고    scopus 로고
    • The neurobiology of antiepileptic drugs
    • Rogawski MA, Lö scher W. The neurobiology of antiepileptic drugs. Nat Rev Neurosci 2004; 5: 553-564.
    • (2004) Nat Rev Neurosci , vol.5 , pp. 553-564
    • Rogawski, M.A.1    Löscher, W.2
  • 5
    • 84890883246 scopus 로고    scopus 로고
    • Epilepsy, E/I balance and GABAA receptor plasticity
    • Fritschy JM. Epilepsy, E/I balance and GABAA receptor plasticity. Frontiers Mol Neurosci 2008; 1: 5.
    • (2008) Frontiers Mol Neurosci , vol.1 , pp. 5
    • Fritschy, J.M.1
  • 6
    • 7944233055 scopus 로고    scopus 로고
    • Genetic association studies in epilepsy: 'The truth is out there'
    • Tan NCK, Mulley JC, Berkovic SF. Genetic association studies in epilepsy: 'the truth is out there'. Epilepsia 2004; 45: 1429-1442.
    • (2004) Epilepsia , vol.45 , pp. 1429-1442
    • Tan, N.C.K.1    Mulley, J.C.2    Berkovic, S.F.3
  • 7
    • 23444437212 scopus 로고    scopus 로고
    • Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: Where to from here?
    • Cavalleri GL, Lynch JM, Depondt C, Burley MW, Wood NW, Sisodiya SM, et al. Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here? Brain 2005; 128: 1832-1840.
    • (2005) Brain , vol.128 , pp. 1832-1840
    • Cavalleri, G.L.1    Lynch, J.M.2    Depondt, C.3    Burley, M.W.4    Wood, N.W.5    Sisodiya, S.M.6
  • 9
    • 84865785503 scopus 로고    scopus 로고
    • How should we be searching for genes for common epilepsy? A critique and a prescription
    • Greenberg DA, Stewart WCL. How should we be searching for genes for common epilepsy? A critique and a prescription. Epilepsia 2012; 53: 72-80.
    • (2012) Epilepsia , vol.53 , pp. 72-80
    • Greenberg, D.A.1    Stewart, W.C.L.2
  • 10
    • 84866165696 scopus 로고    scopus 로고
    • Failure to find association between febrile seizures and SCN1A rs3812718 polymorphism in south Indian patients with mesial temporal lobe epilepsy and hippocampal sclerosis
    • Balan S, Vellichirammal NN, Banerjee M, Radhakrishnan K. Failure to find association between febrile seizures and SCN1A rs3812718 polymorphism in south Indian patients with mesial temporal lobe epilepsy and hippocampal sclerosis. Epilepsy Res 2012; 101: 288-292.
    • (2012) Epilepsy Res , vol.101 , pp. 288-292
    • Balan, S.1    Vellichirammal, N.N.2    Banerjee, M.3    Radhakrishnan, K.4
  • 11
    • 79955913489 scopus 로고    scopus 로고
    • Long-term seizure outcome and its predictors in patients with recurrent seizures during the first year after temporal lobe resective epilepsy surgery
    • Ramesha KN, Mooney T, Sarma PS, Radhakrishnan K. Long-term seizure outcome and its predictors in patients with recurrent seizures during the first year after temporal lobe resective epilepsy surgery. Epilepsia 2011; 52: 917-924.
    • (2011) Epilepsia , vol.52 , pp. 917-924
    • Ramesha, K.N.1    Mooney, T.2    Sarma, P.S.3    Radhakrishnan, K.4
  • 12
    • 79958120547 scopus 로고    scopus 로고
    • Prognostic importance of serial postoperative EEGs after anterior temporal lobectomy
    • Rathore C, Sarma SP, Radhakrishnan K. Prognostic importance of serial postoperative EEGs after anterior temporal lobectomy. Neurology 2011; 76: 1925-1931.
    • (2011) Neurology , vol.76 , pp. 1925-1931
    • Rathore, C.1    Sarma, S.P.2    Radhakrishnan, K.3
  • 14
    • 0141828609 scopus 로고    scopus 로고
    • Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands
    • Vijai J, Cherian P, Sylaja P, Anand A, Radhakrishnan K. Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands. Seizure 2003; 12: 490-496.
    • (2003) Seizure , vol.12 , pp. 490-496
    • Vijai, J.1    Cherian, P.2    Sylaja, P.3    Anand, A.4    Radhakrishnan, K.5
  • 15
    • 77950594101 scopus 로고    scopus 로고
    • Association of alpha subunit of GABA A receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population
    • Kumari R, Lakhan R, Kalita J, Misra U, Mittal B. Association of alpha subunit of GABA A receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population. Seizure 2010; 19: 237-241.
    • (2010) Seizure , vol.19 , pp. 237-241
    • Kumari, R.1    Lakhan, R.2    Kalita, J.3    Misra, U.4    Mittal, B.5
  • 16
    • 79955464225 scopus 로고    scopus 로고
    • Potential role of GABAA receptor subunit; GABRA6 GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population
    • Kumari R, Lakhan R, Kalita J, Garg R, Misra U, Mittal B. Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population. Clin Chim Acta 2011; 412: 1244-1248.
    • (2011) Clin Chim Acta , vol.412 , pp. 1244-1248
    • Kumari, R.1    Lakhan, R.2    Kalita, J.3    Garg, R.4    Misra, U.5    Mittal, B.6
  • 17
    • 77954512288 scopus 로고    scopus 로고
    • Mutations in GABAA receptor subunits associated with genetic epilepsies
    • Macdonald RL, Kang JQ, Gallagher MJ. Mutations in GABAA receptor subunits associated with genetic epilepsies. J Physiol 2010; 588: 1861-1869.
    • (2010) J Physiol , vol.588 , pp. 1861-1869
    • MacDonald, R.L.1    Kang, J.Q.2    Gallagher, M.J.3
  • 18
    • 0029831493 scopus 로고    scopus 로고
    • Update on the mechanism of action of antiepileptic drugs
    • Meldrum BS. Update on the mechanism of action of antiepileptic drugs. Epilepsia 2007; 37:S4-S11.
    • (2007) Epilepsia , vol.37
    • Meldrum, B.S.1
  • 19
    • 0031720906 scopus 로고    scopus 로고
    • Selective changes in single cell GABAA receptor subunit expression and function in temporal lobe epilepsy
    • Brooks-Kayal AR, Shumate MD, Jin H, Rikhter TY, Coulter DA. Selective changes in single cell GABAA receptor subunit expression and function in temporal lobe epilepsy. Nat Med 1998; 4: 1166-1172.
    • (1998) Nat Med , vol.4 , pp. 1166-1172
    • Brooks-Kayal, A.R.1    Shumate, M.D.2    Jin, H.3    Rikhter, T.Y.4    Coulter, D.A.5
  • 20
    • 47149113591 scopus 로고    scopus 로고
    • Antiepileptic drug resistant rats differ from drug responsive rats in GABA A receptor subunit expression in a model of temporal lobe epilepsy
    • Bethmann K, Fritschy JM, Brandt C, Lö scher W. Antiepileptic drug resistant rats differ from drug responsive rats in GABA A receptor subunit expression in a model of temporal lobe epilepsy. Neurobiol Dis 2008; 31: 169.
    • (2008) Neurobiol Dis , vol.31 , pp. 169
    • Bethmann, K.1    Fritschy, J.M.2    Brandt, C.3    Löscher, W.4
  • 21
    • 33947224258 scopus 로고    scopus 로고
    • Association of GABRG2 polymorphisms with idiopathic generalized epilepsy
    • Chou I, Lee CC, Tsai CH, Tsai Y, Wan L, Hsu YA, et al. Association of GABRG2 polymorphisms with idiopathic generalized epilepsy. Pediatr Neurol 2007; 36: 40-44.
    • (2007) Pediatr Neurol , vol.36 , pp. 40-44
    • Chou, I.1    Lee, C.C.2    Tsai, C.H.3    Tsai, Y.4    Wan, L.5    Hsu, Y.A.6
  • 22
    • 33746934227 scopus 로고    scopus 로고
    • Examining the role of common genetic variation in the g2 subunit of the GABAA receptor in epilepsy using tagging SNPs
    • Kinirons P, Cavalleri GL, Shahwan A, Wood NW, Goldstein DB, Sisodiya SM, et al. Examining the role of common genetic variation in the g2 subunit of the GABAA receptor in epilepsy using tagging SNPs. Epilepsy Res 2006; 70: 229-238.
    • (2006) Epilepsy Res , vol.70 , pp. 229-238
    • Kinirons, P.1    Cavalleri, G.L.2    Shahwan, A.3    Wood, N.W.4    Goldstein, D.B.5    Sisodiya, S.M.6
  • 23
    • 35248883597 scopus 로고    scopus 로고
    • Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: A case-control study
    • Cavalleri GL, Weale ME, Shianna KV, Singh R, Lynch JM, Grinton B, et al. Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol 2007; 6: 970-980.
    • (2007) Lancet Neurol , vol.6 , pp. 970-980
    • Cavalleri, G.L.1    Weale, M.E.2    Shianna, K.V.3    Singh, R.4    Lynch, J.M.5    Grinton, B.6
  • 24
    • 33748416882 scopus 로고    scopus 로고
    • A crypto-Dravidian origin for the nontribal communities of South India based on human leukocyte antigen class i diversity
    • Thomas R, Nair S, Banerjee M. A crypto-Dravidian origin for the nontribal communities of South India based on human leukocyte antigen class I diversity. Tissue Antigens 2006; 68: 225-234.
    • (2006) Tissue Antigens , vol.68 , pp. 225-234
    • Thomas, R.1    Nair, S.2    Banerjee, M.3
  • 26
    • 0029097465 scopus 로고
    • Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors
    • Gü nther U, Benson J, Benke D, Fritschy JM, Reyes G, Knoflach F, et al. Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors. Proc Natl Acad Sci USA 1995; 92: 7749-7753.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 7749-7753
    • Günther, U.1    Benson, J.2    Benke, D.3    Fritschy, J.M.4    Reyes, G.5    Knoflach, F.6
  • 27
    • 33644665247 scopus 로고    scopus 로고
    • Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin
    • Essrich C, Lorez M, Benson JA, Fritschy JM, Luscher B. Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin. Nat Neurosci 1998; 1: 563-571.
    • (1998) Nat Neurosci , vol.1 , pp. 563-571
    • Essrich, C.1    Lorez, M.2    Benson, J.A.3    Fritschy, J.M.4    Luscher, B.5
  • 30
    • 0038648525 scopus 로고    scopus 로고
    • Association analysis of gamma 2 subunit of gamma-aminobutyric acid type A receptor polymorphisms with febrile seizures
    • Chou IC, Peng CT, Huang CC, Tsai JJP, Tsai FJ, Tsai CH. Association analysis of gamma 2 subunit of gamma-aminobutyric acid type A receptor polymorphisms with febrile seizures. Pediatr Res 2003; 54: 26-29.
    • (2003) Pediatr Res , vol.54 , pp. 26-29
    • Chou, I.C.1    Peng, C.T.2    Huang, C.C.3    Tsai, J.J.P.4    Tsai, F.J.5    Tsai, C.H.6
  • 31
    • 84871272736 scopus 로고    scopus 로고
    • GABRG2 gene polymorphisms in Egyptian children with simple febrile seizures
    • Salam SMA, Rahman HMA, Karam RA. GABRG2 gene polymorphisms in Egyptian children with simple febrile seizures. Indian J Pediatr 2012; 79: 1514-1516.
    • (2012) Indian J Pediatr , vol.79 , pp. 1514-1516
    • Salam, S.M.A.1    Rahman, H.M.A.2    Karam, R.A.3
  • 32
    • 0038324191 scopus 로고    scopus 로고
    • Failure to find causal mutations in the GABAA-receptor g2 subunit (GABRG2) gene in Japanese febrile seizure patients
    • Nakayama J, Hamano K, Noguchi E, Horiuchi Y, Iwasaki N, Ohta M, et al. Failure to find causal mutations in the GABAA-receptor g2 subunit (GABRG2) gene in Japanese febrile seizure patients. Neurosci Lett 2003; 343: 117-120.
    • (2003) Neurosci Lett , vol.343 , pp. 117-120
    • Nakayama, J.1    Hamano, K.2    Noguchi, E.3    Horiuchi, Y.4    Iwasaki, N.5    Ohta, M.6
  • 33
    • 30144442387 scopus 로고    scopus 로고
    • Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures
    • Ma S, Abou-Khalil B, Blair MA, Sutcliffe JS, Haines JL, Hedera P. Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures. Neurosci Lett 2006; 394: 74-78.
    • (2006) Neurosci Lett , vol.394 , pp. 74-78
    • Ma, S.1    Abou-Khalil, B.2    Blair, M.A.3    Sutcliffe, J.S.4    Haines, J.L.5    Hedera, P.6
  • 34
    • 84872165082 scopus 로고    scopus 로고
    • GABRG2 rs211037 polymorphism and epilepsy: A systematic review and meta-analysis
    • Haerian BS, Baum L. GABRG2 rs211037 polymorphism and epilepsy: a systematic review and meta-analysis. Seizure 2013; 22: 53-58.
    • (2013) Seizure , vol.22 , pp. 53-58
    • Haerian, B.S.1    Baum, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.