-
1
-
-
0035956488
-
Partial epilepsy and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
-
Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R et al. (2001). Partial epilepsy and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 57, 2265-2272.
-
(2001)
Neurology
, vol.57
, pp. 2265-2272
-
-
Abou-Khalil, B.1
Ge, Q.2
Desai, R.3
Ryther, R.4
Bazyk, A.5
Bailey, R.6
-
2
-
-
0023661819
-
Grasping for calcium binding sites in sodium channels with an EF hand
-
Babitch JA & Anthony FA (1987). Grasping for calcium binding sites in sodium channels with an EF hand. J Theor Biol 127, 451-459.
-
(1987)
J Theor Biol
, vol.127
, pp. 451-459
-
-
Babitch, J.A.1
Anthony, F.A.2
-
4
-
-
0027409755
-
Functional expression of sodium channel mutations identified in families with periodic paralysis
-
Cannon SC & Strittmatter SM (1993). Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 10, 317-326.
-
(1993)
Neuron
, vol.10
, pp. 317-326
-
-
Cannon, S.C.1
Strittmatter, S.M.2
-
5
-
-
0038240713
-
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
-
Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, Del Favero J et al. (2003). De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 21, 615-621.
-
(2003)
Hum Mutat
, vol.21
, pp. 615-621
-
-
Claes, L.1
Ceulemans, B.2
Audenaert, D.3
Smets, K.4
Lofgren, A.5
Del Favero, J.6
-
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 Broeckhoven C & De Jonghe P (2001). De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 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 Broeckhoven, C.5
De Jonghe, P.6
-
7
-
-
0002227436
-
Severe myoclonic epilepsy in infants
-
ed. Rogers J, Bureau M, Dravet C, Dreifuss FE & Wolf P, John Libbey, London
-
Dravet C, Bureau M, Guerrini R, Giraud N & Toger J (1992). Severe myoclonic epilepsy in infants. In Epileptic Syndromes in Infancy, Childhood and Adolescence, ed. Rogers J, Bureau M, Dravet C, Dreifuss FE & Wolf P, pp. 75-88. John Libbey, London.
-
(1992)
Epileptic Syndromes in Infancy, Childhood and Adolescence
, pp. 75-88
-
-
Dravet, C.1
Bureau, M.2
Guerrini, R.3
Giraud, N.4
Toger, J.5
-
8
-
-
4644351105
-
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype
-
Duno M, Colding-Jorgensen E, Grunnet M, Jespersen T, Vissing J & Schwartz M (2004). Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. Eur J Hum Genet 12, 738-743.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 738-743
-
-
Duno, M.1
Colding-Jorgensen, E.2
Grunnet, M.3
Jespersen, T.4
Vissing, J.5
Schwartz, M.6
-
9
-
-
0035071143
-
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - And prevalence of variants in patients with epilepsy
-
Escayg A, Heils A, MacDonald BT, Haug K, Sander T & Meisler MH (200 1). A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy. Am J Hum Genet 68, 866-873.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 866-873
-
-
Escayg, A.1
Heils, A.2
MacDonald, B.T.3
Haug, K.4
Sander, T.5
Meisler, M.H.6
-
10
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I et al. (2000). Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genet 24, 343-345.
-
(2000)
Nature Genet
, vol.24
, pp. 343-345
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
Baulac, S.4
Huberfeld, G.5
An-Gourfinkel, I.6
-
11
-
-
0344672944
-
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
-
Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M et al. (2003). Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126, 531-546.
-
(2003)
Brain
, vol.126
, pp. 531-546
-
-
Fujiwara, T.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
Takahashi, Y.4
Fukushima, K.5
Watanabe, M.6
-
13
-
-
0037077834
-
Sodium-channel defects in benign familial neonatal-infantile seizures
-
Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A et al. (2002). Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 360, 851-852.
-
(2002)
Lancet
, vol.360
, pp. 851-852
-
-
Heron, S.E.1
Crossland, K.M.2
Andermann, E.3
Phillips, H.A.4
Hall, A.J.5
Bleasel, A.6
-
14
-
-
0036158906
-
+-channel α1 subunit gene, SCN1A
-
+-channel α1 subunit gene, SCN1A. Epilepsy Res 48, 15-23.
-
(2002)
Epilepsy Res
, vol.48
, pp. 15-23
-
-
Ito, M.1
Nagafuji, H.2
Okazawa, H.3
Yamakawa, K.4
Sugawara, T.5
Mazaki-Miyazaki, E.6
-
15
-
-
12144286141
-
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline
-
Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M et al. (2004). A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 24, 2690-2698.
-
(2004)
J Neurosci
, vol.24
, pp. 2690-2698
-
-
Kamiya, K.1
Kaneda, M.2
Sugawara, T.3
Mazaki, E.4
Okamura, N.5
Montal, M.6
-
16
-
-
0347479237
-
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A
-
Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, Carniciu S et al. (2003). Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci 23, 11289-11295.
-
(2003)
J Neurosci
, vol.23
, pp. 11289-11295
-
-
Lossin, C.1
Rhodes, T.H.2
Desai, R.R.3
Vanoye, C.G.4
Wang, D.5
Carniciu, S.6
-
17
-
-
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
-
19
-
-
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
-
20
-
-
3342929286
-
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
-
Rhodes TH, Lossin C, Vanoye CG, Wang DW & George AL Jr (2004). Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A 101, 11147-11152.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 11147-11152
-
-
Rhodes, T.H.1
Lossin, C.2
Vanoye, C.G.3
Wang, D.W.4
George Jr., A.L.5
-
21
-
-
0034783413
-
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)
-
Scheffer IE, Wallace R, Mulley JC & Berkovic SF (2001). Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain Dev 23, 732-735.
-
(2001)
Brain Dev
, vol.23
, pp. 732-735
-
-
Scheffer, I.E.1
Wallace, R.2
Mulley, J.C.3
Berkovic, S.F.4
-
22
-
-
0035478007
-
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
-
Spampanato J, Escayg A, Meisler MH & Goldin AL (2001). Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J Neurosci 21, 7481-7490.
-
(2001)
J Neurosci
, vol.21
, pp. 7481-7490
-
-
Spampanato, J.1
Escayg, A.2
Meisler, M.H.3
Goldin, A.L.4
-
24
-
-
20844446135
-
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction
-
Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, Aradi I et al. (2004). A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J Neurosci 24, 10022-10034.
-
(2004)
J Neurosci
, vol.24
, pp. 10022-10034
-
-
Spampanato, J.1
Kearney, J.A.2
de Haan, G.3
McEwen, D.P.4
Escayg, A.5
Aradi, I.6
-
25
-
-
0037046207
-
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S et al. (2002). Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58, 1122-1124.
-
(2002)
Neurology
, vol.58
, pp. 1122-1124
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Fukushima, K.3
Shimomura, J.4
Fujiwara, T.5
Hamano, S.6
-
30
-
-
0035074294
-
Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus
-
Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR et al. (2001). Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 68, 859-865.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 859-865
-
-
Wallace, R.H.1
Scheffer, I.E.2
Barnett, S.3
Richards, M.4
Dibbens, L.5
Desai, R.R.6
-
31
-
-
17344367657
-
+-channel β1 subunit gene, SCN1B
-
+-channel β1 subunit gene, SCN1B. Nature Genet 19, 366-370.
-
(1998)
Nature Genet
, vol.19
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
Scheffer, I.E.4
George Jr., A.L.5
Phillips, H.A.6
-
32
-
-
1442311544
-
An EF-hand in the sodium channel couples intracellular calcium to cardiac excitability
-
Wingo TL, Shah VN, Anderson ME, Lybrand TP, Chazin WJ & Balser JR (2004). An EF-hand in the sodium channel couples intracellular calcium to cardiac excitability. Nature Struct Mol Biol 11, 219-225.
-
(2004)
Nature Struct Mol Biol
, vol.11
, pp. 219-225
-
-
Wingo, T.L.1
Shah, V.N.2
Anderson, M.E.3
Lybrand, T.P.4
Chazin, W.J.5
Balser, J.R.6
-
33
-
-
13244271276
-
Epilepsy and sodium channel gene mutations: Gain or loss of function?
-
Yamakawa K (2005). Epilepsy and sodium channel gene mutations: gain or loss of function? Neuroreport 16, 1-3.
-
(2005)
Neuroreport
, vol.16
, pp. 1-3
-
-
Yamakawa, K.1
-
34
-
-
11144221751
-
Reversed voltage-dependent gating of a bacterial sodium channel with proline substitutions in the S6 transmembrane segment
-
Zhao Y, Scheuer T & Catterall WA (2004). Reversed voltage-dependent gating of a bacterial sodium channel with proline substitutions in the S6 transmembrane segment. Proc Natl Acad Sci U S A 101, 17873-17878.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 17873-17878
-
-
Zhao, Y.1
Scheuer, T.2
Catterall, W.A.3
-
35
-
-
0028106435
-
Pathophysiology of sodium channelopathies: Correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis
-
Zhou J, Spier SJ, Beech J & Hoffman EP (1994). Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis. Hum Mol Genet 3, 1599-1603.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1599-1603
-
-
Zhou, J.1
Spier, S.J.2
Beech, J.3
Hoffman, E.P.4
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