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Volumn 67, Issue 4, 2006, Pages 687-690

A novel GABRG2 mutation associated with febrile seizures

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; ANTICONVULSIVE AGENT; BENZODIAZEPINE; DIAZEPAM; RECEPTOR SUBUNIT;

EID: 33747707462     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000230145.73496.a2     Document Type: Article
Times cited : (138)

References (10)
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    • Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490.
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    • Scheffer, I.E.1    Berkovic, S.F.2
  • 2
    • 0035030766 scopus 로고    scopus 로고
    • First genetic evidence of GABA(A) receptor dysfunction in epilepsy: A mutation in the gamma2-subunit gene
    • Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 2001;28:46-48.
    • (2001) Nat Genet , vol.28 , pp. 46-48
    • Baulac, S.1    Huberfeld, G.2    Gourfinkel-An, I.3
  • 3
    • 0035033520 scopus 로고    scopus 로고
    • Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
    • Wallace RH, Marini C, Petrou S, et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28:49-52.
    • (2001) Nat Genet , vol.28 , pp. 49-52
    • Wallace, R.H.1    Marini, C.2    Petrou, S.3
  • 5
    • 5444253356 scopus 로고    scopus 로고
    • A receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum
    • A receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. J Neurosci 2004;24:8672-8677.
    • (2004) J Neurosci , vol.24 , pp. 8672-8677
    • Kang, J.Q.1    Macdonald, R.L.2
  • 6
    • 0034957202 scopus 로고    scopus 로고
    • International League Against Epilepsy (ILAE): A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology
    • Engel J Jr. International League Against Epilepsy (ILAE): a proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001;42:796-803.
    • (2001) Epilepsia , vol.42 , pp. 796-803
    • Engel Jr., J.1
  • 8
    • 0036753758 scopus 로고    scopus 로고
    • The relative amount of cRNA coding for gamma2 subunits affects stimulation by benzodiazepines in GABA(A) receptors expressed in Xenopus oocytes
    • Boileau AJ, Baur R, Sharkey LM, Sigel E, Czajkowski C. The relative amount of cRNA coding for gamma2 subunits affects stimulation by benzodiazepines in GABA(A) receptors expressed in Xenopus oocytes. Neuropharmacology 2002;43:695-700.
    • (2002) Neuropharmacology , vol.43 , pp. 695-700
    • Boileau, A.J.1    Baur, R.2    Sharkey, L.M.3    Sigel, E.4    Czajkowski, C.5
  • 9
    • 0036155260 scopus 로고    scopus 로고
    • Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
    • Harkin LA, Bowser DN, Dibbens LM, et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002;70:530-536.
    • (2002) Am J Hum Genet , vol.70 , pp. 530-536
    • Harkin, L.A.1    Bowser, D.N.2    Dibbens, L.M.3
  • 10
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    • The impact of receptor desensitization on fast synaptic transmission
    • Jones MV, Westbrook GL. The impact of receptor desensitization on fast synaptic transmission. Trends Neurosci 1996;19:96-101.
    • (1996) Trends Neurosci , vol.19 , pp. 96-101
    • Jones, M.V.1    Westbrook, G.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.