-
1
-
-
0025279668
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|