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Volumn 55, Issue 4, 2014, Pages 528-538

Long-term course of Dravet syndrome: A study from an epilepsy center in Japan

Author keywords

Intractable childhood epilepsy with generalized tonic clonic seizure; Long term course; Neuronal voltage gated sodium channel alpha subunit type 1 gene; Severe myoclonic epilepsy in infancy

Indexed keywords

BENZODIAZEPINE; CARBAMAZEPINE; LAMOTRIGINE; SODIUM CHANNEL NAV1.1; STIRIPENTOL; TOPIRAMATE;

EID: 84899099774     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12532     Document Type: Article
Times cited : (75)

References (40)
  • 1
    • 0025279668 scopus 로고
    • Epidemiology of severe myoclonic epilepsy of infancy
    • Hurst DL,. Epidemiology of severe myoclonic epilepsy of infancy. Epilepsia 1990; 31: 397-400.
    • (1990) Epilepsia , vol.31 , pp. 397-400
    • Hurst, D.L.1
  • 2
    • 84864704934 scopus 로고    scopus 로고
    • Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
    • Brunklaus A, Ellis R, Reavey E, et al. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain 2012; 135: 2329-2336.
    • (2012) Brain , vol.135 , pp. 2329-2336
    • Brunklaus, A.1    Ellis, R.2    Reavey, E.3
  • 3
    • 0034957202 scopus 로고    scopus 로고
    • ILAE Commission Report. 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,. ILAE Commission Report. 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
  • 4
    • 84890167938 scopus 로고    scopus 로고
    • Dravet syndrome (severe myoclonic epilepsy in infancy)
    • In Bureau M. Genton P. Dravet C. Delgado-Escueta A.V. Tassinari C.A. Thomas P. Wolf P. (Eds). 5th Ed. Montrouge: John Libbey Eurotext.
    • Dravet C, Bureau M, Oguni H, et al. Dravet syndrome (severe myoclonic epilepsy in infancy). In, Bureau M, Genton P, Dravet C, Delgado-Escueta AV, Tassinari CA, Thomas P, Wolf P, (Eds) Epileptic syndromes infancy, childhood and adolescence. 5th Ed. Montrouge: John Libbey Eurotext, 2012: 125-156.
    • (2012) Epileptic Syndromes Infancy, Childhood and Adolescence , pp. 125-156
    • Dravet, C.1    Bureau, M.2    Oguni, H.3
  • 5
    • 79953720633 scopus 로고    scopus 로고
    • Cognitive and behavioral characteristics of children with Dravet syndrome: An overview
    • Guzzetta F,. Cognitive and behavioral characteristics of children with Dravet syndrome: an overview. Epilepsia 2011; 52 (Suppl. 2): 35-38.
    • (2011) Epilepsia , vol.52 , Issue.SUPPL. 2 , pp. 35-38
    • Guzzetta, F.1
  • 6
    • 84998485972 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 Jpn 1982; 36: 319-320.
    • (1982) Folia Psychiatr Jpn , vol.36 , pp. 319-320
    • Higashi, T.1    Morikawa, T.2    Seino, M.3
  • 7
    • 0002506849 scopus 로고
    • Intractable grand mal epilepsy developed in the first year of life
    • In Manelis J. Bentol E. Loever J.N. Dreifuss F.E. (Eds). New York, NY: Raven Press.
    • Watanabe M, Fujiwara T, Terauchi N, et al. Intractable grand mal epilepsy developed in the first year of life. In, Manelis J, Bentol E, Loever JN, Dreifuss FE, (Eds) Advances in epileptology: the 17th Epilepsy International Symposium. New York, NY: Raven Press, 1989: 327-329.
    • (1989) Advances in Epileptology: The 17th Epilepsy International Symposium , pp. 327-329
    • Watanabe, M.1    Fujiwara, T.2    Terauchi, N.3
  • 8
    • 0034987073 scopus 로고    scopus 로고
    • De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
    • Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001; 68: 1327-1332.
    • (2001) Am J Hum Genet , vol.68 , pp. 1327-1332
    • Claes, L.1    Del-Favero, J.2    Ceulemans, B.3
  • 9
    • 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
  • 10
    • 0036304363 scopus 로고    scopus 로고
    • Siginificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
    • Ohmori I, Ouchida M, Ohtsuka Y, et al. Siginificant 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
  • 11
    • 0344672944 scopus 로고    scopus 로고
    • Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
    • Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003; 126: 531-546.
    • (2003) Brain , vol.126 , pp. 531-546
    • Fujiwara, T.1    Sugawara, T.2    Mazaki-Miyazaki, E.3
  • 12
    • 33750594715 scopus 로고    scopus 로고
    • Clinical spectrum of mutations in SCN1A gene: Severe myoclonic epilepsy in infancy and related epilepsies
    • Fujiwara T,. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res 2006; 70 (Suppl. 1): S223-S230.
    • (2006) Epilepsy Res , vol.70 , Issue.SUPPL. 1
    • Fujiwara, T.1
  • 13
    • 33845956438 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
    • Jansen FE, Sadleir LG, Harkin LA, et al. Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology 2006; 67: 2224-2226.
    • (2006) Neurology , vol.67 , pp. 2224-2226
    • Jansen, F.E.1    Sadleir, L.G.2    Harkin, L.A.3
  • 14
    • 70449098130 scopus 로고    scopus 로고
    • Severe myoclonic of infancy (Dravet syndrome)
    • In Nikanorova M. Genton P. Sabers A. (Eds). Paris: John Libbey Eurotext.
    • Dravet C, Daquin G, Battaglia D,. Severe myoclonic of infancy (Dravet syndrome). In, Nikanorova M, Genton P, Sabers A, (Eds) Long-term evolution of epileptic encephalopathies. Paris: John Libbey Eurotext, 2009: 29-38.
    • (2009) Long-term Evolution of Epileptic Encephalopathies , pp. 29-38
    • Dravet, C.1    Daquin, G.2    Battaglia, D.3
  • 15
    • 77954626810 scopus 로고    scopus 로고
    • A long-term follow-up study of Dravet syndrome up to adulthood
    • Akiyama M, Kobayashi K, Yoshinaga H, et al. A long-term follow-up study of Dravet syndrome up to adulthood. Epilepsia 2010; 51: 1043-1052.
    • (2010) Epilepsia , vol.51 , pp. 1043-1052
    • Akiyama, M.1    Kobayashi, K.2    Yoshinaga, H.3
  • 16
    • 79953698195 scopus 로고    scopus 로고
    • Dravet syndrome: The long-term outcome
    • Genton P, Velizarova R, Dravet C,. Dravet syndrome: the long-term outcome. Epilepsia 2011; 52 (Suppl. 2): 44-49.
    • (2011) Epilepsia , vol.52 , Issue.SUPPL. 2 , pp. 44-49
    • Genton, P.1    Velizarova, R.2    Dravet, C.3
  • 17
    • 0026788579 scopus 로고
    • Long-term course of childhood epilepsy with intractable grand mal seizures
    • Fujiwara T, Watanabe M, Takahashi Y, et al. Long-term course of childhood epilepsy with intractable grand mal seizures. Jpn J Psychiatry Neurol 1992; 46: 297-302.
    • (1992) Jpn J Psychiatry Neurol , vol.46 , pp. 297-302
    • Fujiwara, T.1    Watanabe, M.2    Takahashi, Y.3
  • 18
    • 33747155290 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy in infancy (Dravet syndrome)
    • In Roger J. Bureau M. Dravet C. Genton P. Tassinari C.A. Wolf P. (Eds). 4th Ed. Montrouge: John Libbey Eurotext.
    • Dravet C, Bureau M, Oguni H, et al. Severe myoclonic epilepsy in infancy (Dravet syndrome). In, Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, (Eds) Epileptic syndromes in infancy, childhood and adolescence. 4th Ed. Montrouge: John Libbey Eurotext, 2005: 89-113.
    • (2005) Epileptic Syndromes in Infancy, Childhood and Adolescence , pp. 89-113
    • Dravet, C.1    Bureau, M.2    Oguni, H.3
  • 19
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission on Classification and Terminology of the International League Against Epilepsy.
    • Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 30: 389-399.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 20
    • 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, et al. Severe myoclonic epilepsy in infants- a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev 2001; 23: 736-748.
    • (2001) Brain Dev , vol.23 , pp. 736-748
    • Oguni, H.1    Hayashi, K.2    Awaya, Y.3
  • 21
    • 84899078295 scopus 로고    scopus 로고
    • Long-term outcome
    • In Dravet C. Guerrini R. (Eds). Paris: John Libbey Eurotext.
    • Dravet C, Guerrini R,. Long-term outcome. In, Dravet C, Guerrini R, (Eds) Dravet syndrome. Paris: John Libbey Eurotext, 2011: 83-91.
    • (2011) Dravet Syndrome , pp. 83-91
    • Dravet, C.1    Guerrini, R.2
  • 22
    • 0035057536 scopus 로고    scopus 로고
    • Photosensitivity in relation to epileptic syndromes: A survey from an epilepsy center in Japan
    • Shiraishi H, Fujiwara T, Inoue Y, et al. Photosensitivity in relation to epileptic syndromes: a survey from an epilepsy center in Japan. Epilepsia 2001; 42: 393-397.
    • (2001) Epilepsia , vol.42 , pp. 393-397
    • Shiraishi, H.1    Fujiwara, T.2    Inoue, Y.3
  • 23
    • 0028970528 scopus 로고
    • Wavelength specificity of photoparoxysmal responses in idiopathic generalized epilepsy
    • Takahashi Y, Fujiwara T, Yagi K, et al. Wavelength specificity of photoparoxysmal responses in idiopathic generalized epilepsy. Epilepsia 1995; 36: 1084-1088.
    • (1995) Epilepsia , vol.36 , pp. 1084-1088
    • Takahashi, Y.1    Fujiwara, T.2    Yagi, K.3
  • 24
    • 0033595521 scopus 로고    scopus 로고
    • Photosensitive epilepsies and pathophysiologic mechanisms of the photoparoxysmal response
    • Takahashi Y, Fujiwara T, Yagi K, et al. Photosensitive epilepsies and pathophysiologic mechanisms of the photoparoxysmal response. Neurology 1999; 53: 926-932.
    • (1999) Neurology , vol.53 , pp. 926-932
    • Takahashi, Y.1    Fujiwara, T.2    Yagi, K.3
  • 25
    • 79953706028 scopus 로고    scopus 로고
    • Electroencephalographic characteristics of Dravet syndrome
    • Bureau M, Dalla Bernardina B,. Electroencephalographic characteristics of Dravet syndrome. Epilepsia 2011; 52 (Suppl. 2): 13-23.
    • (2011) Epilepsia , vol.52 , Issue.SUPPL. 2 , pp. 13-23
    • Bureau, M.1    Dalla Bernardina, B.2
  • 26
    • 84855456991 scopus 로고    scopus 로고
    • Acute encephalopathy in children with Dravet syndrome
    • Okumura A, Uematsu M, Imataka G, et al. Acute encephalopathy in children with Dravet syndrome. Epilepsia 2012; 53: 79-86.
    • (2012) Epilepsia , vol.53 , pp. 79-86
    • Okumura, A.1    Uematsu, M.2    Imataka, G.3
  • 27
    • 79958780751 scopus 로고    scopus 로고
    • Retrospective multiinstitutional study of prevalence of early death in Dravet syndrome
    • Sakauchi M, Oguni H, Kato I, et al. Retrospective multiinstitutional study of prevalence of early death in Dravet syndrome. Epilepsia 2011; 52: 1144-1149.
    • (2011) Epilepsia , vol.52 , pp. 1144-1149
    • Sakauchi, M.1    Oguni, H.2    Kato, I.3
  • 28
    • 79951640921 scopus 로고    scopus 로고
    • Genotype-phenotype associations in SCN1A-related epilepsies
    • Zuberi SM, Brunklaus A, Birch R, et al. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology 2011; 76: 594-600.
    • (2011) Neurology , vol.76 , pp. 594-600
    • Zuberi, S.M.1    Brunklaus, A.2    Birch, R.3
  • 29
    • 80054087471 scopus 로고    scopus 로고
    • Dravet syndrome as epileptic encephalopathy: Evidence from long-term course and neuropathology
    • Catarino CB, Liu JY, Liagkouras I, et al. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 2011; 134: 2982-3010.
    • (2011) Brain , vol.134 , pp. 2982-3010
    • Catarino, C.B.1    Liu, J.Y.2    Liagkouras, I.3
  • 30
    • 79951678915 scopus 로고    scopus 로고
    • Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients
    • Ragona F, Granata T, Dalla Bernardina B, et al. Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. Epilepsia 2011; 52: 386-392.
    • (2011) Epilepsia , vol.52 , pp. 386-392
    • Ragona, F.1    Granata, T.2    Dalla Bernardina, B.3
  • 31
    • 0034638786 scopus 로고    scopus 로고
    • Stiripentol in severe myoclonic epilepsy in infancy: A randomised placebo-controlled syndrome-dedicated trial
    • Chiron C, Marchand MC, Tran A, et al. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. Lancet 2000; 356: 1638-1642.
    • (2000) Lancet , vol.356 , pp. 1638-1642
    • Chiron, C.1    Marchand, M.C.2    Tran, A.3
  • 32
    • 70350401140 scopus 로고    scopus 로고
    • Stiripentol open study in Japanese patients with Dravet syndrome
    • Inoue Y, Ohtsuka Y, Oguni H, et al. Stiripentol open study in Japanese patients with Dravet syndrome. Epilepsia 2009; 50: 2362-2368.
    • (2009) Epilepsia , vol.50 , pp. 2362-2368
    • Inoue, Y.1    Ohtsuka, Y.2    Oguni, H.3
  • 33
    • 77954649572 scopus 로고    scopus 로고
    • Effectiveness of topiramate in eleven patients with Dravet syndrome
    • Takahashi H, Takahashi Y, Mine J, et al. Effectiveness of topiramate in eleven patients with Dravet syndrome. No To Hattatsu 2010; 42: 273-276 (in Japanese).
    • (2010) No to Hattatsu , vol.42 , pp. 273-276
    • Takahashi, H.1    Takahashi, Y.2    Mine, J.3
  • 34
    • 43349103389 scopus 로고    scopus 로고
    • A screening test for the prediction of Dravet syndrome before one year of age
    • Hattori J, Ouchida M, Ono J, et al. A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia 2008; 49: 626-633.
    • (2008) Epilepsia , vol.49 , pp. 626-633
    • Hattori, J.1    Ouchida, M.2    Ono, J.3
  • 35
    • 62149088190 scopus 로고    scopus 로고
    • Spectrum of SCN1A gene mutations associated with Dravet syndrome: Analysis of 333 patients
    • Depienne C, Trouillard O, Saint-Martin C, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 2009; 46: 183-191.
    • (2009) J Med Genet , vol.46 , pp. 183-191
    • Depienne, C.1    Trouillard, O.2    Saint-Martin, C.3
  • 36
    • 34249775767 scopus 로고    scopus 로고
    • Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation
    • Osaka H, Ogiwara I, Mazaki E, et al. Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Epilepsy Res 2007; 75: 46-51.
    • (2007) Epilepsy Res , vol.75 , pp. 46-51
    • Osaka, H.1    Ogiwara, I.2    Mazaki, E.3
  • 37
    • 33749681862 scopus 로고    scopus 로고
    • Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations
    • Mancardi MM, Striano P, Gennaro E, et al. Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. Epilepsia 2006; 47: 1629-1635.
    • (2006) Epilepsia , vol.47 , pp. 1629-1635
    • Mancardi, M.M.1    Striano, P.2    Gennaro, E.3
  • 38
    • 0025359576 scopus 로고
    • Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy
    • Fujiwara T, Nakamura H, Watanabe M, et al. Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy. Epilepsia 1990; 31: 281-286.
    • (1990) Epilepsia , vol.31 , pp. 281-286
    • Fujiwara, T.1    Nakamura, H.2    Watanabe, M.3
  • 39
    • 44849099029 scopus 로고    scopus 로고
    • Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy
    • Sun H, Zhang Y, Liang J, et al. Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. Epilepsia 2008; 49: 1104-1107.
    • (2008) Epilepsia , vol.49 , pp. 1104-1107
    • Sun, H.1    Zhang, Y.2    Liang, J.3
  • 40
    • 73349084982 scopus 로고    scopus 로고
    • The SCN1A variant database: A novel research and diagnostic tool
    • Claes LR, Deprez L, Suls A, et al. The SCN1A variant database: a novel research and diagnostic tool. Hum Mutat 2009; 30: E904-E920.
    • (2009) Hum Mutat , vol.30
    • Claes, L.R.1    Deprez, L.2    Suls, A.3


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