-
1
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
-
DOI 10.1086/320609
-
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P,. (2001) De novo mutations in the sodium-channel gene SCN1A causes severe myoclonic epilepsy of infancy. Am J Hum Genet 68: 1327-1332. (Pubitemid 32510608)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.6
, pp. 1327-1332
-
-
Claes, L.1
Del-Favero, J.2
Ceulemans, B.3
Lagae, L.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
2
-
-
0024317220
-
Proposal for revised classification of epilepsies and epileptic syndromes
-
Commission on Classification and Terminology of the ILAE
-
Commission on Classification and Terminology of the ILAE. (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30: 389-399.
-
(1989)
Epilepsia
, vol.30
, pp. 389-399
-
-
-
3
-
-
61449230751
-
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
-
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E,. (2009b) Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 5: e1000381.
-
(2009)
PLoS Genet
, vol.5
-
-
Depienne, C.1
Bouteiller, D.2
Keren, B.3
Cheuret, E.4
Poirier, K.5
Trouillard, O.6
Benyahia, B.7
Quelin, C.8
Carpentier, W.9
Julia, S.10
Afenjar, A.11
Gautier, A.12
Rivier, F.13
Meyer, S.14
Berquin, P.15
Hélias, M.16
Py, I.17
Rivera, S.18
Bahi-Buisson, N.19
Gourfinkel-An, I.20
Cazeneuve, C.21
Ruberg, M.22
Brice, A.23
Nabbout, R.24
Leguern, E.25
more..
-
4
-
-
0000737282
-
Les épilepsies graves de l'enfant
-
Dravet C,. (1978) Les épilepsies graves de l'enfant. Vie Médicale 8: 543-548.
-
(1978)
Vie Médicale
, vol.8
, pp. 543-548
-
-
Dravet, C.1
-
5
-
-
0002227440
-
Myoclonic epilepsies in childhood
-
In: Akimoto H., Katzamatzuri H., Seino M., Ward A.A. Jr (Eds)., Raven Press, New-York
-
Dravet C, Roger J, Bureau M, Dalla Bernardina B,. (1982). Myoclonic epilepsies in childhood. In:, Akimoto H, Katzamatzuri H, Seino M, Ward AA Jr, (Eds). Advances in Epileptology, Raven Press, New-York, pp. 135-140.
-
(1982)
Advances in Epileptology
, pp. 135-140
-
-
Dravet, C.1
Roger, J.2
Bureau, M.3
Dalla Bernardina, B.4
-
6
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE task force on classification and terminology
-
DOI 10.1046/j.1528-1157.2001.10401.x
-
Engel J Jr,. (2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology. Epilepsia 42: 796-803. (Pubitemid 32605946)
-
(2001)
Epilepsia
, vol.42
, Issue.6
, pp. 796-803
-
-
Engel Jr., J.1
-
7
-
-
35348904490
-
v1.1 mutant mice: Implications for ataxia in severe myoclonic epilepsy in infancy
-
DOI 10.1523/JNEUROSCI.2162-07.2007
-
Kalume F, Yu FH, Westenbroek RE, Scheuer T, Catterall WA,. (2007) Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. J Neurosci 27: 11065-11074. (Pubitemid 47574172)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.41
, pp. 11065-11074
-
-
Kalume, F.1
Yu, F.H.2
Westenbroek, R.E.3
Scheuer, T.4
Catterall, W.A.5
-
8
-
-
67649985908
-
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
-
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC,. (2009) SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 50: 1670-1678.
-
(2009)
Epilepsia
, vol.50
, pp. 1670-1678
-
-
Marini, C.1
Scheffer, I.E.2
Nabbout, R.3
Mei, D.4
Cox, K.5
Dibbens, L.M.6
McMahon, J.M.7
Iona, X.8
Carpintero, R.S.9
Elia, M.10
Cilio, M.R.11
Specchio, N.12
Giordano, L.13
Striano, P.14
Gennaro, E.15
Cross, J.H.16
Kivity, S.17
Neufeld, M.Y.18
Afawi, Z.19
Andermann, E.20
Keene, D.21
Dulac, O.22
Zara, F.23
Berkovic, S.F.24
Guerrini, R.25
Mulley, J.C.26
more..
-
9
-
-
62649142705
-
Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy
-
Oakley JC, Kalume F, Yu FH, Scheuer T, Catterall WA,. (2009) Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Proc Natl Acad Sci U S A 106: 3994-3999.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 3994-3999
-
-
Oakley, J.C.1
Kalume, F.2
Yu, F.H.3
Scheuer, T.4
Catterall, W.A.5
-
10
-
-
34249791771
-
v1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation
-
DOI 10.1523/JNEUROSCI.5270-06.2007
-
Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK, Yamakawa K,. (2007) Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 27: 5903-5914. (Pubitemid 46849766)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.22
, pp. 5903-5914
-
-
Ogiwara, I.1
Miyamoto, H.2
Morita, N.3
Atapour, N.4
Mazaki, E.5
Inoue, I.6
Takeuchi, T.7
Itohara, S.8
Yanagawa, Y.9
Obata, K.10
Furuichi, T.11
Hensch, T.K.12
Yamakawa, K.13
-
11
-
-
33748115786
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
-
DOI 10.1038/nn1754, PII NN1754
-
Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA,. (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 9: 1142-1149. (Pubitemid 44306307)
-
(2006)
Nature Neuroscience
, vol.9
, Issue.9
, pp. 1142-1149
-
-
Yu, F.H.1
Mantegazza, M.2
Westenbroek, R.E.3
Robbins, C.A.4
Kalume, F.5
Burton, K.A.6
Spain, W.J.7
McKnight, G.S.8
Scheuer, T.9
Catterall, W.A.10
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