메뉴 건너뛰기




Volumn 25, Issue 7, 2003, Pages 488-493

Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?

Author keywords

Generalized epilepsy with febrile seizures plus; Phenotype; SCN1A; Severe myoclonic epilepsy in infancy

Indexed keywords

SODIUM CHANNEL;

EID: 0345304764     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00038-X     Document Type: Article
Times cited : (42)

References (26)
  • 1
    • 0000737282 scopus 로고
    • Les épilepsies graves de l'enfant
    • Dravet C. Les épilepsies graves de l'enfant. La Vie Médicale. 8:1978;543-548.
    • (1978) La Vie Médicale , vol.8 , pp. 543-548
    • Dravet, C.1
  • 2
    • 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. 295:2002;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
  • 3
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia. 30:1989;389-399.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 4
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
    • Scheffer I.E., Berkovic S.F. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain. 120:1997;479-490.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 5
    • 0032953159 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
    • Singh R., Scheffer I.E., Crossland K., Berkovic S.F. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol. 45:1999;75-81.
    • (1999) Ann Neurol , vol.45 , pp. 75-81
    • Singh, R.1    Scheffer, I.E.2    Crossland, K.3    Berkovic, S.F.4
  • 7
    • 0000943895 scopus 로고
    • A group of childhood epilepsy accompanied by refractory grand mal
    • Higashi T., Morikawa T., Seino M. A group of childhood epilepsy accompanied by refractory grand mal. Folia Psychiatr Neurol Jpn. 38:1984;319-320.
    • (1984) Folia Psychiatr Neurol Jpn , vol.38 , pp. 319-320
    • Higashi, T.1    Morikawa, T.2    Seino, M.3
  • 9
    • 0001448323 scopus 로고
    • Clinical and electroencephalographic study of sever myoclonic epilepsy in infancy (Dravet)
    • Sugama M., Oguni H., Fukuyama Y. Clinical and electroencephalographic study of sever myoclonic epilepsy in infancy (Dravet). Jpn J Psychiat Neurol. 41:1987;463-465.
    • (1987) Jpn J Psychiat Neurol , vol.41 , pp. 463-465
    • Sugama, M.1    Oguni, H.2    Fukuyama, Y.3
  • 10
    • 0034778243 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy in infants - a review based on the Tokyo Women's Medical University series of 84 cases
    • Oguni H., Hayashi K., Awaya Y., Fukuyama Y., Osawa M. Severe myoclonic epilepsy in infants - a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev. 23:2001;736-748.
    • (2001) Brain Dev , vol.23 , pp. 736-748
    • Oguni, H.1    Hayashi, K.2    Awaya, Y.3    Fukuyama, Y.4    Osawa, M.5
  • 12
    • 0024730504 scopus 로고
    • The epileptic syndrome sharing common characteristics during early childhood with severe myoclonic epilepsy in infancy
    • Ogino T., Ohtsuka Y., Yamatogi Y., Oka E., Ohtahara S. The epileptic syndrome sharing common characteristics during early childhood with severe myoclonic epilepsy in infancy. Jpn J Psychiatry Neurol. 43:1989;479-481.
    • (1989) Jpn J Psychiatry Neurol , vol.43 , pp. 479-481
    • Ogino, T.1    Ohtsuka, Y.2    Yamatogi, Y.3    Oka, E.4    Ohtahara, S.5
  • 14
    • 17344367657 scopus 로고    scopus 로고
    • Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B
    • Wallace R.H., Wang D.W., Singh R., Scheffer I.E., George A.L. Jr, Phillips H.A., et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet. 19:1998;366-370.
    • (1998) Nat Genet , vol.19 , pp. 366-370
    • Wallace, R.H.1    Wang, D.W.2    Singh, R.3    Scheffer, I.E.4    George Jr., A.L.5    Phillips, H.A.6
  • 16
    • 0035074294 scopus 로고    scopus 로고
    • Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus
    • Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., et al. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet. 68:2001;859-865.
    • (2001) Am J Hum Genet , vol.68 , pp. 859-865
    • Wallace, R.H.1    Scheffer, I.E.2    Barnett, S.3    Richards, M.4    Dibbens, L.5    Desai, R.R.6
  • 17
  • 18
    • 0035956488 scopus 로고    scopus 로고
    • Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
    • Abou-Khalil B., Ge Q., Desai R., Ryther R., Bazyk A., Bailey R., et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology. 57:2001;2265-2272.
    • (2001) Neurology , vol.57 , pp. 2265-2272
    • Abou-Khalil, B.1    Ge, Q.2    Desai, R.3    Ryther, R.4    Bazyk, A.5    Bailey, R.6
  • 19
    • 0036158906 scopus 로고    scopus 로고
    • Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A
    • Ito M., Nagafuji H., Okazawa H., Yamakawa K., Sugawara T., Mazaki-Miyazaki E., et al. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. Epilepsy Res. 48:2002;15-23.
    • (2002) Epilepsy Res , vol.48 , pp. 15-23
    • Ito, M.1    Nagafuji, H.2    Okazawa, H.3    Yamakawa, K.4    Sugawara, T.5    Mazaki-Miyazaki, E.6
  • 20
    • 14344277590 scopus 로고    scopus 로고
    • A missense mutation of the Na+ channel alpha II subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
    • Sugawara T., Tsurubuchi Y., Agarwala K.L., Ito M., Fukuma G., Mazaki-Miyazaki E., et al. A missense mutation of the Na+ channel alpha II subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci USA. 98:2001;6384-6389.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 6384-6389
    • Sugawara, T.1    Tsurubuchi, Y.2    Agarwala, K.L.3    Ito, M.4    Fukuma, G.5    Mazaki-Miyazaki, E.6
  • 21
    • 0035030766 scopus 로고    scopus 로고
    • First genetic evidence of GABA(A) receptor dysfunction in epilepsy: A mutation in the gamma 2-subunit gene
    • Baulac S., Huberfeld G., Gourfinkel-An I., Mitropoulou G., Beranger A., Prud'homme J.F., et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma 2-subunit gene. Nat Genet. 28:2001;46-48.
    • (2001) Nat Genet , vol.28 , pp. 46-48
    • Baulac, S.1    Huberfeld, G.2    Gourfinkel-An, I.3    Mitropoulou, G.4    Beranger, A.5    Prud'homme, J.F.6
  • 22
    • 0035033520 scopus 로고    scopus 로고
    • Mutant GABA(A) receptor gamma 2-subunit in childhood absence epilepsy and febrile seizures
    • Wallace R.H., Marini C., Petrou S., Harkin L.A., Bowser D.N., Panchal R.G., et al. Mutant GABA(A) receptor gamma 2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 28:2001;49-52.
    • (2001) Nat Genet , vol.28 , pp. 49-52
    • Wallace, R.H.1    Marini, C.2    Petrou, S.3    Harkin, L.A.4    Bowser, D.N.5    Panchal, R.G.6
  • 23
    • 0036155260 scopus 로고    scopus 로고
    • Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
    • Harkin L.A., Bowser D.N., Dibbens L.M., Singh R., Phillips F., Wallace R.H., et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet. 70:2002;530-536.
    • (2002) Am J Hum Genet , vol.70 , pp. 530-536
    • Harkin, L.A.1    Bowser, D.N.2    Dibbens, L.M.3    Singh, R.4    Phillips, F.5    Wallace, R.H.6
  • 24
    • 0035071143 scopus 로고    scopus 로고
    • A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy
    • Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy. Am J Hum Genet. 68:2001;866-873.
    • (2001) Am J Hum Genet , vol.68 , pp. 866-873
    • Escayg, A.1    Heils, A.2    Macdonald, B.T.3    Haug, K.4    Sander, T.5    Meisler, M.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.