-
1
-
-
33646506899
-
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: A retrospective study
-
Berkovic SF, Harkin L McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE 2006) De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol 5 : 488 492.
-
(2006)
Lancet Neurol
, vol.5
, pp. 488-492
-
-
Berkovic, S.F.1
Harkin, L.2
McMahon, J.M.3
Pelekanos, J.T.4
Zuberi, S.M.5
Wirrell, E.C.6
Gill, D.S.7
Iona, X.8
Mulley, J.C.9
Scheffer, I.E.10
-
2
-
-
20144363551
-
Pathogenesis, diagnosis and treatment of Rasmussen encephalitis
-
Bien CG, Granata T, Antozzi C, Cross JH, Dulac O, Kurthen M, Lassmann H, Mantegazza R, Villemure JG, Spreafico R, Elger CE 2005) Pathogenesis, diagnosis and treatment of Rasmussen encephalitis. Brain 128 : 454 471.
-
(2005)
Brain
, vol.128
, pp. 454-471
-
-
Bien, C.G.1
Granata, T.2
Antozzi, C.3
Cross, J.H.4
Dulac, O.5
Kurthen, M.6
Lassmann, H.7
Mantegazza, R.8
Villemure, J.G.9
Spreafico, R.10
Elger, C.E.11
-
3
-
-
23044459961
-
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migrane
-
Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, Van Den Maagdenberg AM, Pusch M, Strom TM 2005) Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migrane. Lancet 366 : 371 377.
-
(2005)
Lancet
, vol.366
, pp. 371-377
-
-
Dichgans, M.1
Freilinger, T.2
Eckstein, G.3
Babini, E.4
Lorenz-Depiereux, B.5
Biskup, S.6
Ferrari, M.D.7
Herzog, J.8
Van Den Maagdenberg, A.M.9
Pusch, M.10
Strom, T.M.11
-
4
-
-
0037071896
-
Molecular basis of an inherited epilepsy
-
Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr. 2002) Molecular basis of an inherited epilepsy. Neuron 34 : 877 884.
-
(2002)
Neuron
, vol.34
, pp. 877-884
-
-
Lossin, C.1
Wang, D.W.2
Rhodes, T.H.3
Vanoye, C.G.4
George Jr., A.L.5
-
5
-
-
29144515651
-
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures
-
Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A 2005) Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad Sci USA 102 : 18177 18182.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 18177-18182
-
-
Mantegazza, M.1
Gambardella, A.2
Rusconi, R.3
Schiavon, E.4
Annesi, F.5
Cassulini, R.R.6
Labate, A.7
Carrideo, S.8
Chifari, R.9
Canevini, M.P.10
Canger, R.11
Franceschetti, S.12
Annesi, G.13
Wanke, E.14
Quattrone, A.15
-
6
-
-
0036304363
-
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
-
Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K 2002) Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 295 : 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
-
7
-
-
33749665782
-
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy
-
Ohmori I, Kahlig KM, Rhodes TH, Wang DW, George AL Jr. 2006) Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia 47 : 1636 1642.
-
(2006)
Epilepsia
, vol.47
, pp. 1636-1642
-
-
Ohmori, I.1
Kahlig, K.M.2
Rhodes, T.H.3
Wang, D.W.4
George Jr., A.L.5
-
8
-
-
84902014898
-
Focal seizures due to chronic localized encephalitis
-
Rasmussen T, Olszewski J, Lloyed-Smith D 1958) Focal seizures due to chronic localized encephalitis. Neurology 8 : 435 445.
-
(1958)
Neurology
, vol.8
, pp. 435-445
-
-
Rasmussen, T.1
Olszewski, J.2
Lloyed-Smith, D.3
-
9
-
-
0028095257
-
Autoantibodies to glutamate receptor GluR3 in Rasmussen's encephalitis
-
Roger SW, Andrews PI, Gahring LC, Whisenand T, Cauley K, Crain B, Hughes TE, Heinemann SF, McNamara JO 1994) Autoantibodies to glutamate receptor GluR3 in Rasmussen's encephalitis. Science 265 : 648 651.
-
(1994)
Science
, vol.265
, pp. 648-651
-
-
Roger, S.W.1
Andrews, P.I.2
Gahring, L.C.3
Whisenand, T.4
Cauley, K.5
Crain, B.6
Hughes, T.E.7
Heinemann, S.F.8
McNamara, J.O.9
-
10
-
-
0030943313
-
Generalized epilepsy with febrile seizures plus. a genetic disorder with heterogeneous clinical phenotypes
-
Scheffer IE, Berkovic SF 1997) Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 120 : 479 490.
-
(1997)
Brain
, vol.120
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
11
-
-
33845617903
-
Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: Molecular mimicry and HLA class I
-
Takahashi Y, Matsuda K, Kubota Y, Shimomura J, Yamasaki E, Kudo T, Fukushima K, Osaka H, Akasaka N, Imamura A, Yamada S, Kondo N, Fujiwara T 2006) Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: Molecular mimicry and HLA class I. Clin Dev Immunol 13 : 381 387.
-
(2006)
Clin Dev Immunol
, vol.13
, pp. 381-387
-
-
Takahashi, Y.1
Matsuda, K.2
Kubota, Y.3
Shimomura, J.4
Yamasaki, E.5
Kudo, T.6
Fukushima, K.7
Osaka, H.8
Akasaka, N.9
Imamura, A.10
Yamada, S.11
Kondo, N.12
Fujiwara, T.13
-
12
-
-
0037222315
-
Sodium channels SCN1A, SCN2A, and SCN3A in autism
-
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH 2003) Sodium channels SCN1A, SCN2A, and SCN3A in autism. Mol Psychiatry 8 : 186 194.
-
(2003)
Mol Psychiatry
, vol.8
, pp. 186-194
-
-
Weiss, L.A.1
Escayg, A.2
Kearney, J.A.3
Trudeau, M.4
MacDonald, B.T.5
Mori, M.6
Reichert, J.7
Buxbaum, J.D.8
Meisler, M.H.9
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