메뉴 건너뛰기




Volumn 61, Issue 6, 2003, Pages 854-856

A deletion in SCN1B is associated with febrile seizures and early-onset abence epilepsy

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENOMIC DNA; IMMUNOGLOBULIN;

EID: 0141653010     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000080362.55784.1C     Document Type: Article
Times cited : (151)

References (10)
  • 1
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes
    • Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 2
    • 0034069651 scopus 로고    scopus 로고
    • Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
    • Letter
    • Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000;24:343-345. Letter.
    • (2000) Nat Genet , vol.24 , pp. 343-345
    • Escayg, A.1    MacDonald, B.T.2    Meisler, M.H.3
  • 3
    • 14344277590 scopus 로고    scopus 로고
    • + channel alpha-II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
    • + channel alpha-II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci USA 2001;98:6384-6389.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 6384-6389
    • Sugawara, T.1    Tsurubuchi, Y.2    Agarwala, K.L.3
  • 4
    • 0035033520 scopus 로고    scopus 로고
    • Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
    • Letter
    • 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. Letter.
    • (2001) Nat Genet , vol.28 , pp. 49-52
    • Wallace, R.H.1    Marini, C.2    Petrou, S.3
  • 5
    • 17344367657 scopus 로고    scopus 로고
    • Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B
    • Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B. Nat Genet 1998;19:366-370.
    • (1998) Nat Genet , vol.19 , pp. 366-370
    • Wallace, R.H.1    Wang, D.W.2    Singh, R.3
  • 6
    • 0033824460 scopus 로고    scopus 로고
    • Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing
    • Alderborn A, Kristofferson A, Hammerling U. Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing. Genome Res 2000;10:1249-1258.
    • (2000) Genome Res , vol.10 , pp. 1249-1258
    • Alderborn, A.1    Kristofferson, A.2    Hammerling, U.3
  • 7
    • 0035074294 scopus 로고    scopus 로고
    • Neuronal sodium-channel alphal-subunit mutations in generalized epilepsy with febrile seizures plus
    • Wallace RH, Scheffer IE, Barnett S, et al. Neuronal sodium-channel alphal-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001;68:859-865.
    • (2001) Am J Hum Genet , vol.68 , pp. 859-865
    • Wallace, R.H.1    Scheffer, I.E.2    Barnett, S.3
  • 8
    • 0037076493 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B
    • Wallace RH, Scheffer IE, Parasivam G, et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002;58:1426-1429.
    • (2002) Neurology , vol.58 , pp. 1426-1429
    • Wallace, R.H.1    Scheffer, I.E.2    Parasivam, G.3
  • 9
    • 0032512652 scopus 로고    scopus 로고
    • + channel function in the extracellular domain of the betal subunit
    • + channel function in the extracellular domain of the betal subunit. J Biol Chem 1998;273:3954-3962.
    • (1998) J Biol Chem , vol.273 , pp. 3954-3962
    • McCormick, K.A.1    Isom, L.L.2    Ragsdale, D.3
  • 10
    • 0037115031 scopus 로고    scopus 로고
    • Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1
    • Meadows LS, Malhotra J, Loukas A, et al. Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. J Neurosci 2002;22:10699-10709.
    • (2002) J Neurosci , vol.22 , pp. 10699-10709
    • Meadows, L.S.1    Malhotra, J.2    Loukas, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.