-
1
-
-
33644823780
-
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability
-
Barela, A.J., Waddy, S.P., Lickfett, J.G., Hunter, J., Anido, A., Helmers, S.L., Goldin, A.L. & Escayg, A. (2006) An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. J. Neurosci., 26, 2714-2723.
-
(2006)
J. Neurosci.
, vol.26
, pp. 2714-2723
-
-
Barela, A.J.1
Waddy, S.P.2
Lickfett, J.G.3
Hunter, J.4
Anido, A.5
Helmers, S.L.6
Goldin, A.L.7
Escayg, A.8
-
2
-
-
33646506899
-
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
-
Berkovic, S.F., Harkin, L., McMahon, J.M., Pelekanos, J.T., Zuberi, S.M., Wirrel, E.C., Gill, D.S., Iona, X., Mulley, J.C. & Scheffer, I.E. (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
Wirrel, E.C.6
Gill, D.S.7
Iona, X.8
Mulley, J.C.9
Scheffer, I.E.10
-
4
-
-
33745011301
-
Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains
-
Chung, H.J., Jan, Y.N. & Jan, L.Y. (2006) Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains. Proc. Natl. Acad. Sci. USA, 103, 8870-8875.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 8870-8875
-
-
Chung, H.J.1
Jan, Y.N.2
Jan, L.Y.3
-
5
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
-
Claes, L., Del-Favore, 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-Favore, J.2
Ceulemans, B.3
Lagae, L.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
6
-
-
62149088190
-
Spectrum of SCN1A gene mutations associated with DS: analysis of 333 patients
-
Depienne, C., Trouillard, O., Saint-Martin, C., Gourfinkel-An, I., Bouteiller, D., Carpentier, W., Keren, B., Albert, B., Gautier, A., Baulac, S., Arzimanoglou, A., Cazeneuve, W., Nabbout, R. & LeGeurn, E. (2009) Spectrum of SCN1A gene mutations associated with DS: analysis of 333 patients. J. Med. Genet., 46, 183-191.
-
(2009)
J. Med. Genet.
, vol.46
, pp. 183-191
-
-
Depienne, C.1
Trouillard, O.2
Saint-Martin, C.3
Gourfinkel-An, I.4
Bouteiller, D.5
Carpentier, W.6
Keren, B.7
Albert, B.8
Gautier, A.9
Baulac, S.10
Arzimanoglou, A.11
Cazeneuve, W.12
Nabbout, R.13
LeGeurn, E.14
-
7
-
-
0034069651
-
Mutation in SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg, A., MacDonald, B.T., Meisler, M.H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., Buresi, C. & Malafosse, A. (2000) Mutation in SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature, 24, 343-345.
-
(2000)
Nature
, 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
Brice, A.7
LeGuern, E.8
Moulard, B.9
Chaigne, D.10
Buresi, C.11
Malafosse, A.12
-
8
-
-
10744227466
-
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
-
Fukuma, G., Oguni, H., Shirasaka, Y., Watanabe, K., Miyajima, T., Yasumoto, S., Ohfu, M., Inoue, T., Watanachai, A., Kira, R., Matsuo, M., Muranaka, H., Sofue, F., Zhang, B., Kaneko, S., Mitsudome, A. & Hirose, S. (2004) Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia, 45, 140-148.
-
(2004)
Epilepsia
, vol.45
, pp. 140-148
-
-
Fukuma, G.1
Oguni, H.2
Shirasaka, Y.3
Watanabe, K.4
Miyajima, T.5
Yasumoto, S.6
Ohfu, M.7
Inoue, T.8
Watanachai, A.9
Kira, R.10
Matsuo, M.11
Muranaka, H.12
Sofue, F.13
Zhang, B.14
Kaneko, S.15
Mitsudome, A.16
Hirose, S.17
-
9
-
-
0038324123
-
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity
-
Gennaro, E., Veggiotti, P., Malacarne, M., Madia, F., Cecconi, M., Cardinali, S., Cassetti, A., Cecconi, I., Bertini, E., Bianchi, A., Gobbi, G. & Zara, F. (2003) Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. Epileptic Disord., 5, 21-25.
-
(2003)
Epileptic Disord.
, vol.5
, pp. 21-25
-
-
Gennaro, E.1
Veggiotti, P.2
Malacarne, M.3
Madia, F.4
Cecconi, M.5
Cardinali, S.6
Cassetti, A.7
Cecconi, I.8
Bertini, E.9
Bianchi, A.10
Gobbi, G.11
Zara, F.12
-
10
-
-
33947123754
-
The spectrum of SCN1A-related infantile epileptic encephalopathies
-
Infantile Epileptic Encephalopathy Referral Consortium
-
Harkin, L.A., McMahon, J.M., Iona, X., Dibbens, L., Pelekanos, J.T., Zuberi, S.M., Sadleir, L.G., Andermann, E., Gill, D., Farrell, K., Connolly, M., Stanley, T., Harbord, M., Andermann, F., Wang, J., Batish, S.D., Jones, J.G., Seltzer, W.K., Gardner, A., Infantile Epileptic Encephalopathy Referral Consortium, Sutherland, G., Berkovic, S.F., Mulley, J.C. & Scheffer, I.E. (2007) The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain, 130, 843-852.
-
(2007)
Brain
, vol.130
, pp. 843-852
-
-
Harkin, L.A.1
McMahon, J.M.2
Iona, X.3
Dibbens, L.4
Pelekanos, J.T.5
Zuberi, S.M.6
Sadleir, L.G.7
Andermann, E.8
Gill, D.9
Farrell, K.10
Connolly, M.11
Stanley, T.12
Harbord, M.13
Andermann, F.14
Wang, J.15
Batish, S.D.16
Jones, J.G.17
Seltzer, W.K.18
Gardner, A.19
Sutherland, G.20
Berkovic, S.F.21
Mulley, J.C.22
Scheffer, I.E.23
more..
-
11
-
-
33751108977
-
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation
-
Kahlig, K.M., Misra, S.N. & George, A.L. Jr (2006) Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. J. Neurosci., 26, 10958-10966.
-
(2006)
J. Neurosci.
, vol.26
, pp. 10958-10966
-
-
Kahlig, K.M.1
Misra, S.N.2
George Jr, A.L.3
-
12
-
-
84860393115
-
v1.1
-
v1.1. Epilepsia, 19, 443-445.
-
(2010)
Epilepsia
, vol.19
, pp. 443-445
-
-
Liao, W.P.1
Shi, Y.W.2
Long, Y.S.3
Zeng, Y.4
Li, T.5
Yu, M.J.6
Su, T.7
Deng, P.8
Lei, Z.G.9
Xu, S.J.10
Deng, W.Y.11
Liu, X.R.12
Sun, W.W.13
Yi, Y.H.14
Xu, Z.C.15
Duan, S.16
-
13
-
-
58249130592
-
A catalog of SCN1A variants
-
Lossin, C. (2009) A catalog of SCN1A variants. Brain Dev., 31, 114-130.
-
(2009)
Brain Dev.
, vol.31
, pp. 114-130
-
-
Lossin, C.1
-
14
-
-
0037071896
-
Molecular basis of an inherited epilepsy
-
Lossin, C., Wang, D.W., Rhodes, T.H., Vanoye, C.G. & George, A.L. 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
-
15
-
-
0347479237
-
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A
-
Lossin, C., Rhodes, T.H., Desai, R.R., Vanoye, C.G., Wang, D., Carniciu, S., Devinsky, O. & George, A.L. Jr (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
Devinsky, O.7
George Jr, A.L.8
-
16
-
-
77951248599
-
Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABA-ergic) interneuron abnormalities
-
Martin, M.S., Dutt, K., Papale, L.A., Dubé, C.M., Dutton, S.B., de Haan, G., Shankar, A., Tufik, S., Meisler, M.H., Baram, T.Z., Goldin, A.L. & Escayg, A. (2010) Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABA-ergic) interneuron abnormalities. J. Biol. Chem., 285, 9823-9834.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 9823-9834
-
-
Martin, M.S.1
Dutt, K.2
Papale, L.A.3
Dubé, C.M.4
Dutton, S.B.5
de Haan, G.6
Shankar, A.7
Tufik, S.8
Meisler, M.H.9
Baram, T.Z.10
Goldin, A.L.11
Escayg, A.12
-
17
-
-
15744405775
-
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes
-
Mohler, P.J., Rivolta, I., Napolitano, C., LeMaillet, G., Lambert, S., Priori, S.G. & Bennet, V. (2004) Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. Proc. Natl. Acad. Sci. USA, 101, 17533-17538.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 17533-17538
-
-
Mohler, P.J.1
Rivolta, I.2
Napolitano, C.3
LeMaillet, G.4
Lambert, S.5
Priori, S.G.6
Bennet, V.7
-
18
-
-
62649142705
-
Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy
-
Oakley, J.C., Kalume, F., Yu, F.H., Scheuer, T. & Catterall, W.A. (2009) Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Proc. Natl. Acad. Sci. USA, 106, 3994-3999.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 3994-3999
-
-
Oakley, J.C.1
Kalume, F.2
Yu, F.H.3
Scheuer, T.4
Catterall, W.A.5
-
19
-
-
34249791771
-
Nav1.1 localized to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation
-
Ogiwara, I., Miyamoto, H., Morita, N., Atapour, N., Mazaki, E., Inoue, I., Takeuchi, T., Itohara, S., Yanagawa, Y., Obata, K., Furuichi, T., Hensch, T.K. & Yamakawa, K. (2007) Nav1.1 localized 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.
-
(2007)
J. Neurosci.
, vol.27
, 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
-
20
-
-
33749665782
-
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy
-
Ohmori, I., Kahlig, K.M., Rhodes, T.H., Wang, D.W. & George, A.L. 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
-
21
-
-
69449089315
-
A functional null mutation of SCN1B in a patient with DS
-
Patino, G.A., Claes, L.R., Lopez-Santiago, L.F., Slat, E.A., Dondeti, R.S., Chen, C., O'Malley, H.A., Gray, C.B., Miyazaki, H., Nukina, N., Oyama, F., De Jonghe, P. & Isom, L.L. (2009) A functional null mutation of SCN1B in a patient with DS. J. Neurosci., 29, 10764-10778.
-
(2009)
J. Neurosci.
, vol.29
, pp. 10764-10778
-
-
Patino, G.A.1
Claes, L.R.2
Lopez-Santiago, L.F.3
Slat, E.A.4
Dondeti, R.S.5
Chen, C.6
O'Malley, H.A.7
Gray, C.B.8
Miyazaki, H.9
Nukina, N.10
Oyama, F.11
De Jonghe, P.12
Isom, L.L.13
-
22
-
-
3342929286
-
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
-
Rhodes, T.H., Lossin, C., Vanoye, C.G., Wang, D.W. & George, A.L. Jr (2004) Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc. Natl. Acad. Sci. USA, 101, 11147-11152.
-
(2004)
Proc. Natl. Acad. Sci. USA
, 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
-
23
-
-
0034850563
-
Severe myclonic epilepsy of infancy: extended spectrum of GEFS+?
-
Singh, R., Andermann, E., Whitehouse, W.P., Harvey, A.S., Keene, D.L., Seni, M.H., Crossland, K.M., Andermann, F., Berkovic, S.F. & Scheffer, I.E. (2001) Severe myclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia, 42, 837-844.
-
(2001)
Epilepsia
, vol.42
, pp. 837-844
-
-
Singh, R.1
Andermann, E.2
Whitehouse, W.P.3
Harvey, A.S.4
Keene, D.L.5
Seni, M.H.6
Crossland, K.M.7
Andermann, F.8
Berkovic, S.F.9
Scheffer, I.E.10
-
24
-
-
0035478007
-
Functional effect of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
-
Spampanato, J., Escayg, A., Meisler, M.H. & Goldin, A.L. (2001) Functional effect 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
-
26
-
-
20844446135
-
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction
-
Spampanato, J., Kearney, J.A., de Haan, G., McEwen, D.P., Escayg, A., Aradi, I., MacDonald, B.T., Levin, S.I., Soltesz, I., Benna, P., Montalenti, E., Isom, L.L., Goldin, A.L. & Meisler, M.H. (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
MacDonald, B.T.7
Levin, S.I.8
Soltesz, I.9
Benna, P.10
Montalenti, E.11
Isom, L.L.12
Goldin, A.L.13
Meisler, M.H.14
-
27
-
-
37749029721
-
Persistent sodium current and its role in epilepsy
-
Stafstrom, C.E. (2007) Persistent sodium current and its role in epilepsy. Epilepsy Curr., 7, 15-22.
-
(2007)
Epilepsy Curr.
, vol.7
, pp. 15-22
-
-
Stafstrom, C.E.1
-
28
-
-
33748339365
-
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients
-
Suls, A., Claeys, K.G., Goossens, D., Harding, B., Van Luijk, R., Scheers, S., Deprez, L., Audenaert, D., Van Dyck, T., Beeckmans, S., Smouts, I., Ceulemans, B., Lagae, L., Buyse, G., Barisic, N., Misson, J.P., Wauters, J., Del-Favero, J., De Jonghe, P. & Claes, L.R. (2006) Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum. Mutat., 27, 914-920.
-
(2006)
Hum. Mutat.
, vol.27
, pp. 914-920
-
-
Suls, A.1
Claeys, K.G.2
Goossens, D.3
Harding, B.4
Van Luijk, R.5
Scheers, S.6
Deprez, L.7
Audenaert, D.8
Van Dyck, T.9
Beeckmans, S.10
Smouts, I.11
Ceulemans, B.12
Lagae, L.13
Buyse, G.14
Barisic, N.15
Misson, J.P.16
Wauters, J.17
Del-Favero, J.18
De Jonghe, P.19
Claes, L.R.20
more..
-
29
-
-
79953693265
-
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene
-
Verbeek, N.E., van Kempen, M., Gunning, W.B., Renier, W.O., Westland, B., Lindhout, D. & Brilstra, E.H. (2011) Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. Epilepsia, 52, e23-e25.
-
(2011)
Epilepsia
, vol.52
-
-
Verbeek, N.E.1
van Kempen, M.2
Gunning, W.B.3
Renier, W.O.4
Westland, B.5
Lindhout, D.6
Brilstra, E.H.7
-
30
-
-
17344367657
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na+ channel beta1 subunit SCN1B
-
Wallace, R.H., Wang, D.W., Singh, R., Scheffer, I.E., George, A.L. Jr, Philips, H.A., Saar, K., Reis, A., Johnson, E.W., Sutherland, G.R., Berkovic, S.F. & Mulley, J.C. (1998) Febrile seizures and generalized epilepsy associated with a mutation in the Na+ channel beta1 subunit SCN1B. Nat. Genet., 19, 366.
-
(1998)
Nat. Genet.
, vol.19
, pp. 366
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
Scheffer, I.E.4
George Jr, A.L.5
Philips, H.A.6
Saar, K.7
Reis, A.8
Johnson, E.W.9
Sutherland, G.R.10
Berkovic, S.F.11
Mulley, J.C.12
-
31
-
-
33748115786
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
-
Yu, F.H., Mantegazza, M., Westenbroek, R.E., Robbins, C.A., Kalume, F., Burton, K.A., Spain, W.J., McKnight, G.S., Scheuer, T. & Catterall, W.A. (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat. Neurosci., 9, 1142-1149.
-
(2006)
Nat. Neurosci.
, vol.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
-
32
-
-
77955983380
-
Milder phenotype with SCN1A truncation mutation other than SMEI
-
Yu, M.J., Shi, Y.W., Gao, M.M., Liu, X.R., Chen, L., Long, Y.S., Yi, Y.H. & Liao, W.P. (2010) Milder phenotype with SCN1A truncation mutation other than SMEI. Seizure, 19, 443-445.
-
(2010)
Seizure
, vol.19
, pp. 443-445
-
-
Yu, M.J.1
Shi, Y.W.2
Gao, M.M.3
Liu, X.R.4
Chen, L.5
Long, Y.S.6
Yi, Y.H.7
Liao, W.P.8
|