메뉴 건너뛰기




Volumn 63, Issue 10, 2004, Pages 1770-1771

Turning on the heat: The search for febrile seizure genes

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; INOSITOL 1 PHOSPHATASE; SODIUM CHANNEL;

EID: 8844272509     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000144285.17019.35     Document Type: Editorial
Times cited : (5)

References (24)
  • 1
    • 0027979943 scopus 로고
    • The prevalence and incidence of convulsive disorders in children
    • Hauser WA. The prevalence and incidence of convulsive disorders in children. Epilepsia 1994;35 Suppl 2:S1-6.
    • (1994) Epilepsia , vol.35 , Issue.SUPPL. 2
    • Hauser, W.A.1
  • 2
    • 0025220423 scopus 로고
    • Prenatal and perinatal antecedents of febrile seizures
    • Nelson KB, Ellenberg JH. Prenatal and perinatal antecedents of febrile seizures. Ann Neurol 1990;27:127-131.
    • (1990) Ann Neurol , vol.27 , pp. 127-131
    • Nelson, K.B.1    Ellenberg, J.H.2
  • 3
    • 0030891536 scopus 로고    scopus 로고
    • Predictors of recurrent febrile seizures. A prospective cohort study
    • Berg AT, Shinnar S, Darefsky AS, et al. Predictors of recurrent febrile seizures. A prospective cohort study. Arch Pediatr Adolesc Med 1997;151:371-378.
    • (1997) Arch Pediatr Adolesc Med , vol.151 , pp. 371-378
    • Berg, A.T.1    Shinnar, S.2    Darefsky, A.S.3
  • 4
    • 0029811902 scopus 로고    scopus 로고
    • Unprovoked seizures in children with febrile seizures: Short-term outcome
    • Berg AT, Shinnar S. Unprovoked seizures in children with febrile seizures: short-term outcome. Neurology 1996;47:562-568.
    • (1996) Neurology , vol.47 , pp. 562-568
    • Berg, A.T.1    Shinnar, S.2
  • 6
    • 6844240853 scopus 로고    scopus 로고
    • Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
    • Johnson EW, Dubovsky J, Rich SS, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998;7:63-67.
    • (1998) Hum Mol Genet , vol.7 , pp. 63-67
    • Johnson, E.W.1    Dubovsky, J.2    Rich, S.S.3
  • 7
    • 0032511770 scopus 로고    scopus 로고
    • Hereditary febrile seizures: Phenotype and evidence for a chromosome 19p locus
    • Kugler SL, Stenroos ES, Mandelbaum DE, et al. Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus. Am J Med Genet 1998;79:354-361.
    • (1998) Am J Med Genet , vol.79 , pp. 354-361
    • Kugler, S.L.1    Stenroos, E.S.2    Mandelbaum, D.E.3
  • 8
    • 0032834017 scopus 로고    scopus 로고
    • A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
    • Peiffer A, Thompson J, Charlier C, et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neurol 1999;46:671-678.
    • (1999) Ann Neurol , vol.46 , pp. 671-678
    • Peiffer, A.1    Thompson, J.2    Charlier, C.3
  • 9
    • 17344375789 scopus 로고    scopus 로고
    • Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
    • Nakayama J, Hamano K, Iwasaki N, et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet 2000;9:87-91.
    • (2000) Hum Mol Genet , vol.9 , pp. 87-91
    • Nakayama, J.1    Hamano, K.2    Iwasaki, N.3
  • 10
    • 0036894233 scopus 로고    scopus 로고
    • A locus for simple pure febrile seizures maps to chromosome 6q22-q24
    • Nabbout R, Prud'homme JF, Herman A, et al. A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain 2002;125:2668-2680.
    • (2002) Brain , vol.125 , pp. 2668-2680
    • Nabbout, R.1    Prud'homme, J.F.2    Herman, A.3
  • 11
    • 17344367657 scopus 로고    scopus 로고
    • Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel betal subunit gene SCN1B
    • Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel betal 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
  • 12
    • 0034069651 scopus 로고    scopus 로고
    • Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
    • 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.
    • (2000) Nat Genet , vol.24 , pp. 343-345
    • Escayg, A.1    MacDonald, B.T.2    Meisler, M.H.3
  • 13
    • 0035964102 scopus 로고    scopus 로고
    • Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
    • Sugawara T, Mazaki-Miyazaki E, Ito M, et al. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 2001;57:703-705.
    • (2001) Neurology , vol.57 , pp. 703-705
    • Sugawara, T.1    Mazaki-Miyazaki, E.2    Ito, M.3
  • 14
    • 14344277590 scopus 로고    scopus 로고
    • A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
    • Sugawara T, Tsurubuchi Y, Agarwala KL, et al. A missense mutation of the Na+ 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
  • 15
    • 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
  • 16
    • 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
  • 17
    • 8844220357 scopus 로고    scopus 로고
    • Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18
    • Nakayama J, Yamamoto N, Hamano K, et al. Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. Neurology 2004;63:1803-1807.
    • (2004) Neurology , vol.63 , pp. 1803-1807
    • Nakayama, J.1    Yamamoto, N.2    Hamano, K.3
  • 18
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-1517.
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 19
    • 18544376557 scopus 로고    scopus 로고
    • Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
    • Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-341.
    • (2002) Nat Genet , vol.30 , pp. 335-341
    • Kalachikov, S.1    Evgrafov, O.2    Ross, B.3
  • 20
    • 3543026306 scopus 로고    scopus 로고
    • Mutations in EFHC1 cause juvenile myoclonic epilepsy
    • Suzuki T, Delgado-Escueta AV, Aguan K, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004;36:842-849.
    • (2004) Nat Genet , vol.36 , pp. 842-849
    • Suzuki, T.1    Delgado-Escueta, A.V.2    Aguan, K.3
  • 22
    • 0038240713 scopus 로고    scopus 로고
    • De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
    • Claes L, Ceulemans B, Audenaert D, et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 2003;21:615-621.
    • (2003) Hum Mutat , vol.21 , pp. 615-621
    • Claes, L.1    Ceulemans, B.2    Audenaert, D.3
  • 23
    • 0037046207 scopus 로고    scopus 로고
    • Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
    • Sugawara T, Mazaki-Miyazaki E, Fukushima K, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002;58:1122-1124.
    • (2002) Neurology , vol.58 , pp. 1122-1124
    • Sugawara, T.1    Mazaki-Miyazaki, E.2    Fukushima, K.3
  • 24
    • 0036304363 scopus 로고    scopus 로고
    • Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
    • Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.
    • (2002) Biochem Biophys Res Commun , vol.295 , pp. 17-23
    • Ohmori, I.1    Ouchida, M.2    Ohtsuka, Y.3    Oka, E.4    Shimizu, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.