-
1
-
-
0002227440
-
Myo-clonic epilepsies in childhood
-
Akimoto H, Kazamat-suri H, Seino M, Ward A, eds. New York: Raven Press
-
Dravet C, Roger J, Bureau M, Dalla Bernardina M. Myo-clonic epilepsies in childhood. In: Akimoto H, Kazamat-suri H, Seino M, Ward A, eds. Advances in Epileptology: XIIIth Epilepsy International Symposium. New York: Raven Press; 1982:135-141.
-
(1982)
Advances in Epileptology: XIIIth Epilepsy International Symposium
, pp. 135-141
-
-
Dravet, C.1
Roger, J.2
Bureau, M.3
Dalla Bernardina, M.4
-
2
-
-
0034957202
-
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. 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
-
3
-
-
33747155290
-
Severe myoclonic epilepsy in infancy: Dravet syndrome
-
Roger J, Bureau M, Dravet C, et al., eds Mon-trouge, France: John Libbey Eurotext Ltd.
-
Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy: Dravet syndrome. In: Roger J, Bureau M, Dravet C, et al., eds. Epileptic Syndromes in Infancy, Childhood and Adolescence. Mon-trouge, France: John Libbey Eurotext Ltd. 2005; 89-113.
-
(2005)
Epileptic Syndromes in Infancy, Childhood and Adolescence
, pp. 89-113
-
-
Dravet, C.1
Bureau, M.2
Oguni, H.3
Fukuyama, Y.4
Cokar, O.5
-
4
-
-
33947123754
-
The spectrum of SCN1A-related infantile epileptic encephalopathies
-
Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130:843-852.
-
(2007)
Brain
, vol.130
, pp. 843-852
-
-
Harkin, L.A.1
McMahon, J.M.2
Iona, X.3
-
5
-
-
16544394846
-
Severe myoclonic epilepsy in infancy: Clinical analysis and relation to SCN1A mutations in a Japanese cohort
-
Oguni H, Hayashi K, Osawa M, et al. Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. Adv Neurol 2005; 95:103-117.
-
(2005)
Adv Neurol
, vol.95
, pp. 103-117
-
-
Oguni, H.1
Hayashi, K.2
Osawa, M.3
-
6
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
-
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeck-hoven C, De Jonghe P. 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
Lagae, L.4
Van Broeck-Hoven, C.5
De Jonghe, P.6
-
7
-
-
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
-
8
-
-
34249843861
-
Dravet syndrome (severe myoclonic epilepsy in infancy): A retrospective study of 16 patients
-
Korff C, Laux L, Kelley K, Goldstein J, Koh S, Nordli D Jr. Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients. J Child Neurol 2007;22:185-194.
-
(2007)
J Child Neurol
, vol.22
, pp. 185-194
-
-
Korff, C.1
Laux, L.2
Kelley, K.3
Goldstein, J.4
Koh, S.5
Nordli D, Jr.6
-
9
-
-
58249130592
-
A catalog of SCN1A variants
-
Lossin C. A catalog of SCN1A variants. Brain Dev 2009; 31:114-130.
-
(2009)
Brain Dev
, vol.31
, pp. 114-130
-
-
Lossin, C.1
-
10
-
-
33748115786
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
-
Yu FH, Mantegazza M, Westenbroek RE, et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neuro-sci 2006;9:1142-1149.
-
(2006)
Nat Neuro-sci
, vol.9
, pp. 1142-1149
-
-
Yu, F.H.1
Mantegazza, M.2
Westenbroek, R.E.3
|