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Volumn 83, Issue 3, 2012, Pages 336-338

Genetic epilepsy with febrile seizures plus: Definite and borderline phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; EPILEPSY; FAMILY; GENETIC ANALYSIS; GENETIC EPILEPSY WITH FEBRILE SEIZURES PLUS; HUMAN; MAJOR CLINICAL STUDY; MIGRAINE; PEDIGREE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; UNITED KINGDOM;

EID: 84863417157     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2011-300405     Document Type: Article
Times cited : (7)

References (17)
  • 1
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
    • DOI 10.1093/brain/120.3.479
    • Scheffer IE, Berkovic SF. Generalised epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-90. (Pubitemid 27153640)
    • (1997) Brain , vol.120 , Issue.3 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 3
    • 17344367657 scopus 로고    scopus 로고
    • Febrile seizures and generalised epilepsy associated with a mutation in the Na+- Channel β1 subunit gene SCN1B
    • Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalised epilepsy associated with a mutation in the Na+- channel β1 subunit gene SCN1B. Nat Genet 1998;19:336-69.
    • (1998) Nat Genet , vol.19 , pp. 336-369
    • Wallace, R.H.1    Wang, D.W.2    Singh, R.3
  • 4
    • 7944233055 scopus 로고    scopus 로고
    • Genetic association studies in epilepsy: "The truth is out there"
    • DOI 10.1111/j.0013-9580.2004.22904.x
    • Tan NC, Mulley JC, Berkovic SF. Genetic association studies in epilepsy: the truth is out there. Epilepsia 2004;45:1429-42. (Pubitemid 39470047)
    • (2004) Epilepsia , vol.45 , Issue.11 , pp. 1429-1442
    • Tan, N.C.K.1    Mulley, J.C.2    Berkovic, S.F.3
  • 5
    • 0042932513 scopus 로고    scopus 로고
    • Epileptic seizures and syndromes in twins: The importance of genetic factors
    • DOI 10.1016/S0920-1211(03)00117-7
    • Kjeldsen MJ, Corey LA, Christensen K, et al. Epileptic seizures and syndromes in twins: the importance of genetic factors. Epilepsy Res 2003;55:137-46. (Pubitemid 37011378)
    • (2003) Epilepsy Research , vol.55 , Issue.1-2 , pp. 137-146
    • Kjeldsen, M.J.1    Corey, L.A.2    Christensen, K.3    Friis, M.L.4
  • 7
    • 0026516209 scopus 로고
    • Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
    • McClatchey AI, Van den Bergh P, Pericak-Vance MA, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992;68:769-74.
    • (1992) Cell , vol.68 , pp. 769-774
    • McClatchey, A.I.1    Van Den Bergh, P.2    Pericak-Vance, M.A.3
  • 8
    • 84863406409 scopus 로고    scopus 로고
    • UC Davis Medical Center, Department of Neurology. (accessed 10 Mar 2011)
    • UC Davis Medical Center, Department of Neurology. http://www.scn1a.info/ (accessed 10 Mar 2011).
  • 9
    • 58249130592 scopus 로고    scopus 로고
    • A catalog of SCN1A variants
    • Lossin C. A catalog of SCN1A variants. Brain Dev 2009;31:114.
    • (2009) Brain Dev , vol.31 , pp. 114
    • Lossin, C.1
  • 10
    • 79951640921 scopus 로고    scopus 로고
    • Genotype-phenotype associations in SCN1Arelated epilepsies
    • Zuberi SM, Brunklaus A, Birch R, et al. Genotype-phenotype associations in SCN1Arelated epilepsies. Neurology 2011;76:594-600.
    • (2011) Neurology , vol.76 , pp. 594-600
    • Zuberi, S.M.1    Brunklaus, A.2    Birch, R.3
  • 13
    • 38049148529 scopus 로고    scopus 로고
    • A review of the genetic relation between migraine and epilepsy
    • Haan J, Terwindt GM, van den Maagdenberg AM, et al. A review of the genetic relation between migraine and epilepsy. Cephalalgia 2008;28:105-13.
    • (2008) Cephalalgia , vol.28 , pp. 105-113
    • Haan, J.1    Terwindt, G.M.2    Van Den Maagdenberg, A.M.3
  • 14
    • 77957812064 scopus 로고    scopus 로고
    • A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura
    • Lafrenière RG, Cader MZ, Poulin JF, et al. A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nat Med 2010;16:1157-60.
    • (2010) Nat Med , vol.16 , pp. 1157-1160
    • Lafrenière, R.G.1    Cader, M.Z.2    Poulin, J.F.3
  • 15
    • 78649984382 scopus 로고    scopus 로고
    • Efficacy and safety of adjunctive ezogabine (retigabine) in refractory partial epilepsy
    • RESTORE 2 Study Group
    • Brodie MJ, Lerche H, Gil-Nagel A, et al; RESTORE 2 Study Group. Efficacy and safety of adjunctive ezogabine (retigabine) in refractory partial epilepsy. Neurology 2010;75:1817-24.
    • (2010) Neurology , vol.75 , pp. 1817-1824
    • Brodie, M.J.1    Lerche, H.2    Gil-Nagel, A.3
  • 17
    • 63849162353 scopus 로고    scopus 로고
    • Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
    • Sijben AEJ, Sithinamsuwan P, Radhakrishnan A, et al. Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? Epilepsia 2009;50:953-6.
    • (2009) Epilepsia , vol.50 , pp. 953-956
    • Sijben, A.E.J.1    Sithinamsuwan, P.2    Radhakrishnan, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.