-
1
-
-
35649001607
-
A quantitative description of membrane current and its application to conduction and excitation in nerve
-
Hodgkin AL, Huxley AF. A quantitative description of membrane current and its application to conduction and excitation in nerve. J Physiol 1952;117:500-44.
-
(1952)
J Physiol
, vol.117
, pp. 500-544
-
-
Hodgkin, A.L.1
Huxley, A.F.2
-
2
-
-
0033694833
-
From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels
-
Catterall WA. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron 2000;26:13-25.
-
(2000)
Neuron
, vol.26
, pp. 13-25
-
-
Catterall, W.A.1
-
3
-
-
0026517122
-
Calcium channel characteristics conferred on the sodium channel by single mutations
-
Heinemann SH, Terlau H, Stuhmer W, Imoto K, Numa S. Calcium channel characteristics conferred on the sodium channel by single mutations. Nature 1992;356:441-3.
-
(1992)
Nature
, vol.356
, pp. 441-443
-
-
Heinemann, S.H.1
Terlau, H.2
Stuhmer, W.3
Imoto, K.4
Numa, S.5
-
5
-
-
29844438166
-
International union of pharmacology. XLVII. nomenclature and structure-function relationships of voltage-gated sodium channels
-
Catterall WA, Goldin AL, Waxman SG. International union of pharmacology. XLVII. nomenclature and structure-function relationships of voltage-gated sodium channels. Pharmacol Rev 2005;57:397-409.
-
(2005)
Pharmacol Rev
, vol.57
, pp. 397-409
-
-
Catterall, W.A.1
Goldin, A.L.2
Waxman, S.G.3
-
6
-
-
0033636506
-
Nomenclature of voltage-gated sodium channels
-
Goldin AL, Barchi RL, Caldwell JH, Hofmann F, Howe JR, Hunter JC, Kallen RG, Mandel G, Meisler MH, Netter YB, Noda M, Tamkun MM, Waxman SG, Wood JN, Catterall WA. Nomenclature of voltage-gated sodium channels. Neuron 2000;28:365-8.
-
(2000)
Neuron
, vol.28
, pp. 365-368
-
-
Goldin, A.L.1
Barchi, R.L.2
Caldwell, J.H.3
Hofmann, F.4
Howe, J.R.5
Hunter, J.C.6
Kallen, R.G.7
Mandel, G.8
Meisler, M.H.9
Netter, Y.B.10
Noda, M.11
Tamkun, M.M.12
Waxman, S.G.13
Wood, J.N.14
Catterall, W.A.15
-
7
-
-
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. De Novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327-32.
-
(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
-
8
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+
-
Escayg A, MacDonal B, Meisler M, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+. Nat Genet 2000;24:343-5.
-
(2000)
Nat Genet
, vol.24
, pp. 343-345
-
-
Escayg, A.1
MacDonal, B.2
Meisler, M.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
-
9
-
-
33947123754
-
The spectrum of SCN1A-related infantile epileptic encephalopathies
-
Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A, The Infantile Epileptic Encephalopathy Referral ConsortiumSutherland G, Berkovic SF, Mulley JC, Scheffer IE. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130:843-52.
-
(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..
-
10
-
-
0030943313
-
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
-
Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-90.
-
(1997)
Brain
, vol.120
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
11
-
-
79951640921
-
Genotypephenotype associations in SCN1A related epilepsies
-
Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH. Genotypephenotype associations in SCN1A related epilepsies. Neurology 2011;76:594-600.
-
(2011)
Neurology
, vol.76
, pp. 594-600
-
-
Zuberi, S.M.1
Brunklaus, A.2
Birch, R.3
Reavey, E.4
Duncan, J.5
Forbes, G.H.6
-
12
-
-
33747155290
-
Severe myoclonic epilepsy in infancy (Dravet syndrome)
-
In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. 4th edn. London: John Libbey
-
Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 4th edn. London: John Libbey, 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
-
13
-
-
73349084982
-
The SCN1A variant database: a novel research and diagnostic tool
-
Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P. The SCN1A variant database: a novel research and diagnostic tool. Hum Mutat 2009;30:E904-20.
-
(2009)
Hum Mutat
, vol.30
, pp. E904-E920
-
-
Claes, L.R.1
Deprez, L.2
Suls, A.3
Baets, J.4
Smets, K.5
Van Dyck, T.6
Deconinck, T.7
Jordanova, A.8
De Jonghe, P.9
-
14
-
-
0037046207
-
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002;58:1122-4.
-
(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
Inoue, Y.7
-
15
-
-
12244289247
-
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)
-
Cossette P, Loukas A, Lafreniere RG, Rochefort D, Harvey-Girard E, Ragsdale S, Dunn RJ, Rouleau GA. Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy Res 2003;53:107-17.
-
(2003)
Epilepsy Res
, vol.53
, pp. 107-117
-
-
Cossette, P.1
Loukas, A.2
Lafreniere, R.G.3
Rochefort, D.4
Harvey-Girard, E.5
Ragsdale, S.6
Dunn, R.J.7
Rouleau, G.A.8
-
16
-
-
3342929286
-
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
-
Rhodes TH, Lossin C, Vanoye CG, Wang DW, George AL. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci 2004;101:11147-52.
-
(2004)
Proc Natl Acad Sci
, vol.101
, pp. 11147-11152
-
-
Rhodes, T.H.1
Lossin, C.2
Vanoye, C.G.3
Wang, D.W.4
George, A.L.5
-
17
-
-
34249791771
-
Nav1.1 localizes 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 TK, Yamakawa K. Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 2007;27:5903-14.
-
(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
-
18
-
-
33748115786
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
-
Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 2006;9:1142-9.
-
(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
-
20
-
-
84866500624
-
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission
-
Han S, Tai C, Westenbroek RE, Yu FH, Cheah CS, Potter GB, Rubenstein JL, Scheuer T, de la Iglesia HO, Catterall WA. Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. Nature 2012;489:385-90.
-
(2012)
Nature
, vol.489
, pp. 385-390
-
-
Han, S.1
Tai, C.2
Westenbroek, R.E.3
Yu, F.H.4
Cheah, C.S.5
Potter, G.B.6
Rubenstein, J.L.7
Scheuer, T.8
de la Iglesia, H.O.9
Catterall, W.A.10
-
21
-
-
84897991504
-
The more, the better: modeling Dravet syndrome with induced pluripotent stem cell-derived neurons
-
Kearney J. The more, the better: modeling Dravet syndrome with induced pluripotent stem cell-derived neurons. Epilepsy Curr 2014;14:33-4.
-
(2014)
Epilepsy Curr
, vol.14
, pp. 33-34
-
-
Kearney, J.1
-
22
-
-
84883302304
-
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism
-
Liu Y, Lopez-Santiago LF, Yuan Y, Jones JM, Zhang H, O'Malley HA, Patino GA, O'Brien JE, Rusconi R, Gupta A, Thompson RC, Natowicz MR, Meisler MH, Isom LL, Parent JM. Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. Ann Neurol 2013;74:128-39.
-
(2013)
Ann Neurol
, vol.74
, pp. 128-139
-
-
Liu, Y.1
Lopez-Santiago, L.F.2
Yuan, Y.3
Jones, J.M.4
Zhang, H.5
O'Malley, H.A.6
Patino, G.A.7
O'Brien, J.E.8
Rusconi, R.9
Gupta, A.10
Thompson, R.C.11
Natowicz, M.R.12
Meisler, M.H.13
Isom, L.L.14
Parent, J.M.15
-
23
-
-
84887553241
-
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome
-
Ogiwara I, Iwasato T, Miyamoto H, Iwata R, Yamagata T, Mazaki E, Yanagawa Y, Tamamaki N, Hensch TK, Itohara S, Yamakawa K. Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet 2013;22:4784-804.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 4784-4804
-
-
Ogiwara, I.1
Iwasato, T.2
Miyamoto, H.3
Iwata, R.4
Yamagata, T.5
Mazaki, E.6
Yanagawa, Y.7
Tamamaki, N.8
Hensch, T.K.9
Itohara, S.10
Yamakawa, K.11
-
24
-
-
0037264170
-
Overview of the voltage-gated sodium channel family
-
Yu F, Catterall W. Overview of the voltage-gated sodium channel family. Genome Biol 2003;4:207-13.
-
(2003)
Genome Biol
, vol.4
, pp. 207-213
-
-
Yu, F.1
Catterall, W.2
-
25
-
-
0016197604
-
Amino acid difference formula to help explain protein evolution
-
Grantham R. Amino acid difference formula to help explain protein evolution. Science 1974;185:862-4.
-
(1974)
Science
, vol.185
, pp. 862-864
-
-
Grantham, R.1
-
26
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
-
Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 2003;33:228-37.
-
(2003)
Nat Genet
, vol.33
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
27
-
-
0035504763
-
Understanding human disease mutations through the use of interspecific genetic variation
-
Miller MP, Kumar S. Understanding human disease mutations through the use of interspecific genetic variation. Hum Mol Genet 2001;10:2319-28.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2319-2328
-
-
Miller, M.P.1
Kumar, S.2
-
28
-
-
70349675760
-
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity
-
Kanai K, Yoshida S, Hirose S, Oguni H, Kuwabara S, Sawai S, Hiraga A, Fukuma G, Iwasa H, Kojima T, Kaneko S. Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity. J Med Genet 2009;46:671-9.
-
(2009)
J Med Genet
, vol.46
, pp. 671-679
-
-
Kanai, K.1
Yoshida, S.2
Hirose, S.3
Oguni, H.4
Kuwabara, S.5
Sawai, S.6
Hiraga, A.7
Fukuma, G.8
Iwasa, H.9
Kojima, T.10
Kaneko, S.11
-
29
-
-
23944514748
-
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures
-
Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M. A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Brain Dev 2005;27:424-30.
-
(2005)
Brain Dev
, vol.27
, pp. 424-430
-
-
Kimura, K.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
Hoshino, K.4
Nomura, Y.5
Tateno, A.6
Hachimori, K.7
Yamakawa, K.8
Segawa, M.9
-
30
-
-
69449089315
-
A functional null mutation of SCN1B in a patient with Dravet syndrome
-
Patino GA, Claes LRF, Lopez-Santiago LF, Slat EA, Dondeti RSR, Chen C, O'Malley HA, Gray CBB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL. A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci 2009;29:10764-78.
-
(2009)
J Neurosci
, vol.29
, pp. 10764-10778
-
-
Patino, G.A.1
Claes, L.R.F.2
Lopez-Santiago, L.F.3
Slat, E.A.4
Dondeti, R.S.R.5
Chen, C.6
O'Malley, H.A.7
Gray, C.B.B.8
Miyazaki, H.9
Nukina, N.10
Oyama, F.11
De Jonghe, P.12
Isom, L.L.13
-
31
-
-
35848965669
-
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy
-
Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Hum Mol Genet 2007;16:2892-99.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2892-2899
-
-
Martin, M.S.1
Tang, B.2
Papale, L.A.3
Yu, F.H.4
Catterall, W.A.5
Escayg, A.6
-
32
-
-
12144285702
-
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy
-
Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 2004;55:550-7.
-
(2004)
Ann Neurol
, vol.55
, pp. 550-557
-
-
Berkovic, S.F.1
Heron, S.E.2
Giordano, L.3
Marini, C.4
Guerrini, R.5
Kaplan, R.E.6
Gambardella, A.7
Steinlein, O.K.8
Grinton, B.E.9
Dean, J.T.10
Bordo, L.11
Hodgson, B.L.12
Yamamoto, T.13
Mulley, J.C.14
Zara, F.15
Scheffer, I.E.16
-
33
-
-
84884572095
-
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
-
Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 2013;81:992-8.
-
(2013)
Neurology
, vol.81
, pp. 992-998
-
-
Nakamura, K.1
Kato, M.2
Osaka, H.3
Yamashita, S.4
Nakagawa, E.5
Haginoya, K.6
Tohyama, J.7
-
34
-
-
84863587686
-
Clinical spectrum of SCN2A mutations
-
Shi X, Yasumoto S, Kurahashi H, Nakagawa E, Fukasawa T, Uchiya S, Hirose S. Clinical spectrum of SCN2A mutations. Brain Dev 2012;34:541-5.
-
(2012)
Brain Dev
, vol.34
, pp. 541-545
-
-
Shi, X.1
Yasumoto, S.2
Kurahashi, H.3
Nakagawa, E.4
Fukasawa, T.5
Uchiya, S.6
Hirose, S.7
-
35
-
-
51249105941
-
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures
-
Misra SN, Kahlig KM, George AL. Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. Epilepsia 2008;49:1535-45.
-
(2008)
Epilepsia
, vol.49
, pp. 1535-1545
-
-
Misra, S.N.1
Kahlig, K.M.2
George, A.L.3
-
36
-
-
77951889844
-
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
-
Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 2010;133:1403-14.
-
(2010)
Brain
, vol.133
, pp. 1403-1414
-
-
Liao, Y.1
Deprez, L.2
Maljevic, S.3
Pitsch, J.4
Claes, L.5
Hristova, D.6
Jordanova, A.7
Ala-Mello, S.8
Bellan-Koch, A.9
Blazevic, D.10
Schubert, S.11
Thomas, E.A.12
Petrou, S.13
Becker, A.J.14
De Jonghe, P.15
Lerche, H.16
-
37
-
-
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, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 2004;24:2690-8.
-
(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
Makita, N.7
Tanaka, M.8
Fukushima, K.9
Fujiwara, T.10
Inoue, Y.11
Yamakawa, K.12
-
38
-
-
26044434843
-
Changes in electrophysiological properties and sodium channel Nav1.3 expression in thalamic neurons after spinal cord injury
-
Hains BC, Saab CY, Waxman SG. Changes in electrophysiological properties and sodium channel Nav1.3 expression in thalamic neurons after spinal cord injury. Brain 2005;128:2359-71.
-
(2005)
Brain
, vol.128
, pp. 2359-2371
-
-
Hains, B.C.1
Saab, C.Y.2
Waxman, S.G.3
-
39
-
-
39149136856
-
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
-
Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett 2008;433:65-70.
-
(2008)
Neurosci Lett
, vol.433
, pp. 65-70
-
-
Holland, K.D.1
Kearney, J.A.2
Glauser, T.A.3
Buck, G.4
Keddache, M.5
Blankston, J.R.6
Glaaser, I.W.7
Kass, R.S.8
Meisler, M.H.9
-
40
-
-
77954658120
-
A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons
-
Estacion M, Gasser A, Dib-Hajj SD, Waxman SG. A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons. Exp Neurol 2010;224:362-8.
-
(2010)
Exp Neurol
, vol.224
, pp. 362-368
-
-
Estacion, M.1
Gasser, A.2
Dib-Hajj, S.D.3
Waxman, S.G.4
-
41
-
-
33751014049
-
Nerve injury induces robust allodynia and ectopic discharges in Nav1.3 null mutant mice
-
Nassar MA, Baker MD, Levato A, Ingram R, Mallucci G, McMahon SB, Wood JN. Nerve injury induces robust allodynia and ectopic discharges in Nav1.3 null mutant mice. Mol Pain 2006;2:33-43.
-
(2006)
Mol Pain
, vol.2
, pp. 33-43
-
-
Nassar, M.A.1
Baker, M.D.2
Levato, A.3
Ingram, R.4
Mallucci, G.5
McMahon, S.B.6
Wood, J.N.7
-
42
-
-
84887358909
-
Novel SCN3A variants associated with focal epilepsy in children
-
Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA. Novel SCN3A variants associated with focal epilepsy in children. Neurobiol Dis 2014;62:313-22.
-
(2014)
Neurobiol Dis
, vol.62
, pp. 313-322
-
-
Vanoye, C.G.1
Gurnett, C.A.2
Holland, K.D.3
George AL, Jr.4
Kearney, J.A.5
-
43
-
-
77955568196
-
Sodium channelopathies of skeletal muscle result from gain or loss of function
-
Jurkat-Rott K, Holzherr B, Fauler M, Lehmann-Horn F. Sodium channelopathies of skeletal muscle result from gain or loss of function. Pflugers Arch 2010;460:239-48.
-
(2010)
Pflugers Arch
, vol.460
, pp. 239-248
-
-
Jurkat-Rott, K.1
Holzherr, B.2
Fauler, M.3
Lehmann-Horn, F.4
-
44
-
-
0027237778
-
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
-
Heine R, Plka U, Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet 1993;2:1349-53.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1349-1353
-
-
Heine, R.1
Plka, U.2
Lehmann-Horn, F.3
-
45
-
-
0029131274
-
Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel
-
Mitroviç N, George AL, Lerche H, Wagner S, Fahlke C, Lehmann-Horn F. Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J Physiol 1995;487:107-14.
-
(1995)
J Physiol
, vol.487
, pp. 107-114
-
-
Mitroviç, N.1
George, A.L.2
Lerche, H.3
Wagner, S.4
Fahlke, C.5
Lehmann-Horn, F.6
-
46
-
-
0028326016
-
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation
-
Chahine M, George AL, Zhou M, Ji S, Sun W, Barchi RL, Horn R. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron 1994;12:281-94.
-
(1994)
Neuron
, vol.12
, pp. 281-294
-
-
Chahine, M.1
George, A.L.2
Zhou, M.3
Ji, S.4
Sun, W.5
Barchi, R.L.6
Horn, R.7
-
47
-
-
79251522916
-
Clinical diversity of SCN4A-mutation-associated skeletal muscle sodium channelopathy
-
Lee SC, Kim HS, Park YE, Choi YC, Park KH, Kim DS. Clinical diversity of SCN4A-mutation-associated skeletal muscle sodium channelopathy. J Clin Neurol 2009;5:186-91.
-
(2009)
J Clin Neurol
, vol.5
, pp. 186-191
-
-
Lee, S.C.1
Kim, H.S.2
Park, Y.E.3
Choi, Y.C.4
Park, K.H.5
Kim, D.S.6
-
48
-
-
34147179031
-
Efficacy of propafenone in paramyotonia congenita
-
Alfonsi E, Merlo IM, Tonini M, Ravaglia S, Brugnoni R, Gozzini A, Moglia A. Efficacy of propafenone in paramyotonia congenita. Neurology 2007;68:1080-1.
-
(2007)
Neurology
, vol.68
, pp. 1080-1081
-
-
Alfonsi, E.1
Merlo, I.M.2
Tonini, M.3
Ravaglia, S.4
Brugnoni, R.5
Gozzini, A.6
Moglia, A.7
-
49
-
-
0030697470
-
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity
-
Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F. A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology 1997;49:1018-25.
-
(1997)
Neurology
, vol.49
, pp. 1018-1025
-
-
Wagner, S.1
Lerche, H.2
Mitrovic, N.3
Heine, R.4
George, A.L.5
Lehmann-Horn, F.6
-
50
-
-
77955038464
-
Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations
-
Sokolov S, Scheuer T, Catterall WA. Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations. J Gen Physiol 2010;136:225-36.
-
(2010)
J Gen Physiol
, vol.136
, pp. 225-236
-
-
Sokolov, S.1
Scheuer, T.2
Catterall, W.A.3
-
51
-
-
77955856284
-
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder
-
Lion-Francois L, Mignot C, Vicart S, Manel V, Sternberg D, Landrieu P, Lesca G, Broussolle E, Billette de Villemeur T, Napuri S, des Portes V, Fontaine B. Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder. Neurology 2010;75:641-5.
-
(2010)
Neurology
, vol.75
, pp. 641-645
-
-
Lion-Francois, L.1
Mignot, C.2
Vicart, S.3
Manel, V.4
Sternberg, D.5
Landrieu, P.6
Lesca, G.7
Broussolle, E.8
Billette De Villemeur, T.9
Napuri, S.10
Des Portes, V.11
Fontaine, B.12
-
52
-
-
79959735974
-
Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder
-
Simkin D, Lena I, Landrieu P, Lion-Francois L, Sternberg D, Fontaine B, Bendahhou S. Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder. J Physiol 2011;589:3115-24.
-
(2011)
J Physiol
, vol.589
, pp. 3115-3124
-
-
Simkin, D.1
Lena, I.2
Landrieu, P.3
Lion-Francois, L.4
Sternberg, D.5
Fontaine, B.6
Bendahhou, S.7
-
53
-
-
77950221262
-
Homozygosity for dominant mutations increases severity of muscle channelopathies
-
Arzel-Hezode M, Sternberg D, Tabti N, Vicart S, Goizet C, Eymard B, Fontaine B, Fournier E. Homozygosity for dominant mutations increases severity of muscle channelopathies. Muscle Nerve 2010;41:470-7.
-
(2010)
Muscle Nerve
, vol.41
, pp. 470-477
-
-
Arzel-Hezode, M.1
Sternberg, D.2
Tabti, N.3
Vicart, S.4
Goizet, C.5
Eymard, B.6
Fontaine, B.7
Fournier, E.8
-
54
-
-
0036471801
-
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome
-
Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet 2002;11:337-45.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 337-345
-
-
Vatta, M.1
Dumaine, R.2
Varghese, G.3
Richard, T.A.4
Shimizu, W.5
Aihara, N.6
Nademanee, K.7
Brugada, R.8
Brugada, J.9
Veerakul, G.10
Li, H.11
Bowles, N.E.12
Brugada, P.13
Antzelevitch, C.14
Towbin, J.A.15
-
56
-
-
0035931932
-
A sodium-channel mutation causes isolated cardiac conduction disease
-
Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ, van den Berg MP, Wilde AA, Balser JR. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 2001;409:1043-7.
-
(2001)
Nature
, vol.409
, pp. 1043-1047
-
-
Tan, H.L.1
Bink-Boelkens, M.T.2
Bezzina, C.R.3
Viswanathan, P.C.4
Beaufort-Krol, G.C.5
van Tintelen, P.J.6
Van Den Berg, M.P.7
Wilde, A.A.8
Balser, J.R.9
-
57
-
-
84555190583
-
Key role of the molecular autopsy in sudden unexpected death
-
Semsarian C, Hamilton RM. Key role of the molecular autopsy in sudden unexpected death. Heart Rhythm 2012;9:145-50.
-
(2012)
Heart Rhythm
, vol.9
, pp. 145-150
-
-
Semsarian, C.1
Hamilton, R.M.2
-
58
-
-
0026466921
-
Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome: a multicenter report
-
Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome: a multicenter report. J Am Coll Cardiol 1992;20:1391-6.
-
(1992)
J Am Coll Cardiol
, vol.20
, pp. 1391-1396
-
-
Brugada, P.1
Brugada, J.2
-
60
-
-
61349143781
-
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
-
Meregalli PG, Tan HL, Probst V, Koopmann TT, Tanck MW, Bhuiyan ZA, Sacher F, Kyndt F, Schott JJ, Albuisson J, Mabo P, Bezzina CR, Le Marec H, Wilde AAM. Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm 2009;6:341-8.
-
(2009)
Heart Rhythm
, vol.6
, pp. 341-348
-
-
Meregalli, P.G.1
Tan, H.L.2
Probst, V.3
Koopmann, T.T.4
Tanck, M.W.5
Bhuiyan, Z.A.6
Sacher, F.7
Kyndt, F.8
Schott, J.J.9
Albuisson, J.10
Mabo, P.11
Bezzina, C.R.12
Le Marec, H.13
Wilde, A.A.M.14
-
61
-
-
77449091606
-
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome
-
Probst V, Wilde AAM, Barc J, Sacher F, Babuty D, Mabo P, Mansourati J, Le Scouarnec S, Kyndt F, Le Caignec C, Guicheney P, Gouas L, Albuisson J, Meregalli PG, Le Marec H, Tan HL, Schott JJ. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Cir Cardiovasc Genet 2009;2:552-7.
-
(2009)
Cir Cardiovasc Genet
, vol.2
, pp. 552-557
-
-
Probst, V.1
Wilde, A.A.M.2
Barc, J.3
Sacher, F.4
Babuty, D.5
Mabo, P.6
Mansourati, J.7
Le Scouarnec, S.8
Kyndt, F.9
Le Caignec, C.10
Guicheney, P.11
Gouas, L.12
Albuisson, J.13
Meregalli, P.G.14
Le Marec, H.15
Tan, H.L.16
Schott, J.J.17
-
62
-
-
70350504284
-
Genetic modulation of Brugada syndrome by a common polymorphism
-
Lizotte E, Junttila M, Dube MP, Hong K, Benito B, De Zutter M, Henkens S, Sarkozy A, Huikuri HV, Towbin J, Vatta M, Brugada P, Brugada J, Brugada R. Genetic modulation of Brugada syndrome by a common polymorphism. J Cardiovasc Electrophysiol 2009;20:1137-41.
-
(2009)
J Cardiovasc Electrophysiol
, vol.20
, pp. 1137-1141
-
-
Lizotte, E.1
Junttila, M.2
Dube, M.P.3
Hong, K.4
Benito, B.5
De Zutter, M.6
Henkens, S.7
Sarkozy, A.8
Huikuri, H.V.9
Towbin, J.10
Vatta, M.11
Brugada, P.12
Brugada, J.13
Brugada, R.14
-
63
-
-
21144438184
-
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families
-
Smits JPP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, Mannens MMAM, Balser JR, Tan HL, Bezzina CR, Wilde AAM. A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol 2005;38:969-81.
-
(2005)
J Mol Cell Cardiol
, vol.38
, pp. 969-981
-
-
Smits, J.P.P.1
Koopmann, T.T.2
Wilders, R.3
Veldkamp, M.W.4
Opthof, T.5
Bhuiyan, Z.A.6
Mannens, MMAM.7
Balser, J.R.8
Tan, H.L.9
Bezzina, C.R.10
Wilde, A.A.M.11
-
64
-
-
79954578382
-
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel
-
Wilde AAM, Brugada R. Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel. Circ Res 2011;108:884-97.
-
(2011)
Circ Res
, vol.108
, pp. 884-897
-
-
Wilde, A.A.M.1
Brugada, R.2
-
65
-
-
0035860984
-
Postmortem molecular analysis of scn5a defects in sudden infant death syndrome
-
Ackerman MJ, Siu BL, Sturner WQ. Postmortem molecular analysis of scn5a defects in sudden infant death syndrome. JAMA 2001;286:2264-9.
-
(2001)
JAMA
, vol.286
, pp. 2264-2269
-
-
Ackerman, M.J.1
Siu, B.L.2
Sturner, W.Q.3
-
66
-
-
79251560652
-
Post-mortem review and genetic analysis of Sudden Unexpected Death in Epilepsy (SUDEP) cases
-
Tu E, Bagnall RD, Duflou J, Semsarian C. Post-mortem review and genetic analysis of Sudden Unexpected Death in Epilepsy (SUDEP) cases. Brain Pathol 2011;21:201-8.
-
(2011)
Brain Pathol
, vol.21
, pp. 201-208
-
-
Tu, E.1
Bagnall, R.D.2
Duflou, J.3
Semsarian, C.4
-
67
-
-
79956116043
-
SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism
-
McNair WP, Sinagra G, Taylor MRG, Di Lenarda A, Ferguson DA, Salcedo EE, Slavov D, Zhu X, Caldwell JH, Mestroni L. SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J Am Coll Cardiol 2011;57:2160-8.
-
(2011)
J Am Coll Cardiol
, vol.57
, pp. 2160-2168
-
-
McNair, W.P.1
Sinagra, G.2
Taylor, M.R.G.3
Di Lenarda, A.4
Ferguson, D.A.5
Salcedo, E.E.6
Slavov, D.7
Zhu, X.8
Caldwell, J.H.9
Mestroni, L.10
-
68
-
-
42149147897
-
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation
-
Darbar D, Kannankeril PJ, Donahue BS, Kucera G, Stubblefield T, Haines JL, George AL, Roden DM. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 2008;117:1927-35.
-
(2008)
Circulation
, vol.117
, pp. 1927-1935
-
-
Darbar, D.1
Kannankeril, P.J.2
Donahue, B.S.3
Kucera, G.4
Stubblefield, T.5
Haines, J.L.6
George, A.L.7
Roden, D.M.8
-
69
-
-
84907643567
-
-
Publicly available database. Molecular Cardiology Laboratories IRCCS Fondazione Salvatore Maugeri & Cardiovasclar Genetics New York University
-
Priori SG, Napolitano C, De Giuli L, Bloise R, Subirana I, Malovini A, Bellazzi R, Arking DE, Marban E, Chakravarti A, Spooner PM. Genetic mutations and inherited arrhythmias. Publicly available database. http://www.fsm.it/cardmoc. Molecular Cardiology Laboratories IRCCS Fondazione Salvatore Maugeri & Cardiovasclar Genetics New York University. http://www.fsm.it/cardmoc.
-
Genetic mutations and inherited arrhythmias
-
-
Priori, S.G.1
Napolitano, C.2
De Giuli, L.3
Bloise, R.4
Subirana, I.5
Malovini, A.6
Bellazzi, R.7
Arking, D.E.8
Marban, E.9
Chakravarti, A.10
Spooner, P.M.11
-
70
-
-
0034625139
-
Sodium channel Nav1.6 is localized at nodes of Ranvier, dendrites, and synapses
-
Caldwell JH, Schaller KL, Lasher RS, Peles E, Levinson SR. Sodium channel Nav1.6 is localized at nodes of Ranvier, dendrites, and synapses. Proc Natl Acad Sci 2000;97:5616-20.
-
(2000)
Proc Natl Acad Sci
, vol.97
, pp. 5616-5620
-
-
Caldwell, J.H.1
Schaller, K.L.2
Lasher, R.S.3
Peles, E.4
Levinson, S.R.5
-
71
-
-
33746613637
-
Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells
-
Levin SI, Khaliq ZM, Aman TK, Grieco TM, Kearney JA, Raman IM, Meisler MH. Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells. J Neurophysiol 2006;96:785-93.
-
(2006)
J Neurophysiol
, vol.96
, pp. 785-793
-
-
Levin, S.I.1
Khaliq, Z.M.2
Aman, T.K.3
Grieco, T.M.4
Kearney, J.A.5
Raman, I.M.6
Meisler, M.H.7
-
72
-
-
84893440324
-
Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability
-
O'Brien JE, Meisler MH. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet 2013;4:213.
-
(2013)
Front Genet
, vol.4
, pp. 213
-
-
O'Brien, J.E.1
Meisler, M.H.2
-
73
-
-
84858070732
-
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
-
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 2012;90:502-10.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 502-510
-
-
Veeramah, K.R.1
O'Brien, J.E.2
Meisler, M.H.3
Cheng, X.4
Dib-Hajj, S.D.5
Waxman, S.G.6
Talwar, D.7
Girirajan, S.8
Eichler, E.E.9
Restifo, L.L.10
Erickson, R.P.11
Hammer, M.F.12
-
74
-
-
84904392275
-
Early onset epileptic encephalopathy caused by de novo SCN8A mutations
-
Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia 2014;55:994-1000.
-
(2014)
Epilepsia
, vol.55
, pp. 994-1000
-
-
Ohba, C.1
Kato, M.2
Takahashi, S.3
Lerman-Sagie, T.4
Lev, D.5
Terashima, H.6
Kubota, M.7
Kawawaki, H.8
Matsufuji, M.9
Kojima, Y.10
Tateno, A.11
Goldberg-Stern, H.12
Straussberg, R.13
Marom, D.14
Leshinsky-Silver, E.15
Nakashima, M.16
Nishiyama, K.17
Tsurusaki, Y.18
Miyake, N.19
Tanaka, F.20
Matsumoto, N.21
Saitsu, H.22
more..
-
75
-
-
33845901486
-
An SCN9A channelopathy causes congenital inability to experience pain
-
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG. An SCN9A channelopathy causes congenital inability to experience pain. Nature 2006;444:894-8.
-
(2006)
Nature
, vol.444
, pp. 894-898
-
-
Cox, J.J.1
Reimann, F.2
Nicholas, A.K.3
Thornton, G.4
Roberts, E.5
Springell, K.6
Karbani, G.7
Jafri, H.8
Mannan, J.9
Raashid, Y.10
Al-Gazali, L.11
Hamamy, H.12
Valente, E.M.13
Gorman, S.14
Williams, R.15
McHale, D.P.16
Wood, J.N.17
Gribble, F.M.18
Woods, C.G.19
-
76
-
-
84879782727
-
Painful Na-channelopathies: an expanding universe
-
Waxman SG. Painful Na-channelopathies: an expanding universe. Trends Mol Med 2013;19:406-9.
-
(2013)
Trends Mol Med
, vol.19
, pp. 406-409
-
-
Waxman, S.G.1
-
77
-
-
33845893561
-
Neurobiology: a channel sets the gain on pain
-
Waxman SG. Neurobiology: a channel sets the gain on pain. Nature 2006;444:831-2.
-
(2006)
Nature
, vol.444
, pp. 831-832
-
-
Waxman, S.G.1
-
79
-
-
28244468409
-
Erythermalgia: molecular basis for an inherited pain syndrome
-
Waxman SG, Dib-Hajj S. Erythermalgia: molecular basis for an inherited pain syndrome. Trends Mol Med 2005;11:555-62.
-
(2005)
Trends Mol Med
, vol.11
, pp. 555-562
-
-
Waxman, S.G.1
Dib-Hajj, S.2
-
80
-
-
67650066369
-
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation
-
Han C, Dib-Hajj SD, Lin Z, Li Y, Eastman EM, Tyrrell L, Cao X, Yang Y, Waxman SG. Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. Brain 2009;132:1711-22.
-
(2009)
Brain
, vol.132
, pp. 1711-1722
-
-
Han, C.1
Dib-Hajj, S.D.2
Lin, Z.3
Li, Y.4
Eastman, E.M.5
Tyrrell, L.6
Cao, X.7
Yang, Y.8
Waxman, S.G.9
-
81
-
-
34548446384
-
Paroxysmal extreme pain disorder ( previously familial rectal pain syndrome)
-
Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, Griesemer DA, Goutieres F, Kirkpatrick M, Malmros IN, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith VV, Testard H, Wong V, Stephenson JB. Paroxysmal extreme pain disorder ( previously familial rectal pain syndrome). Neurology 2007;69:586-95.
-
(2007)
Neurology
, vol.69
, pp. 586-595
-
-
Fertleman, C.R.1
Ferrie, C.D.2
Aicardi, J.3
Bednarek, N.A.4
Eeg-Olofsson, O.5
Elmslie, F.V.6
Griesemer, D.A.7
Goutieres, F.8
Kirkpatrick, M.9
Malmros, I.N.10
Pollitzer, M.11
Rossiter, M.12
Roulet-Perez, E.13
Schubert, R.14
Smith, V.V.15
Testard, H.16
Wong, V.17
Stephenson, J.B.18
-
82
-
-
84856143604
-
Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy
-
Faber CG, Hoeijmakers JGJ, Ahn HS, Cheng X, Han C, Choi JS, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM, Dib-Hajj S, Drenth JPH, Waxman SG, Merkies ISJ. Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol 2012;71:26-39.
-
(2012)
Ann Neurol
, vol.71
, pp. 26-39
-
-
Faber, C.G.1
Hoeijmakers, J.G.J.2
Ahn, H.S.3
Cheng, X.4
Han, C.5
Choi, J.S.6
Estacion, M.7
Lauria, G.8
Vanhoutte, E.K.9
Gerrits, M.M.10
Dib-Hajj, S.11
Drenth, J.P.H.12
Waxman, S.G.13
Merkies, I.S.J.14
-
83
-
-
0030041548
-
A tetrodotoxin-resistant voltage-gated sodium channel expressed by sensory neurons
-
Akopian AN, Sivilotti L, Wood JN. A tetrodotoxin-resistant voltage-gated sodium channel expressed by sensory neurons. Nature 1996;379:257-62.
-
(1996)
Nature
, vol.379
, pp. 257-262
-
-
Akopian, A.N.1
Sivilotti, L.2
Wood, J.N.3
-
84
-
-
0033363999
-
The tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways
-
Akopian AN, Souslova V, England S, Okuse K, Ogata N, Ure J, Smith A, Kerr BJ, McMahon SB, Boyce S, Hill R, Stanfa LC, Dickenson AH, Wood JN. The tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways. Nat Neurosci 1999;2:541-8.
-
(1999)
Nat Neurosci
, vol.2
, pp. 541-548
-
-
Akopian, A.N.1
Souslova, V.2
England, S.3
Okuse, K.4
Ogata, N.5
Ure, J.6
Smith, A.7
Kerr, B.J.8
McMahon, S.B.9
Boyce, S.10
Hill, R.11
Stanfa, L.C.12
Dickenson, A.H.13
Wood, J.N.14
-
85
-
-
84869795443
-
Gain-of-function Nav1.8 mutations in painful neuropathy
-
Faber CG, Lauria G, Merkies ISJ, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JGJ, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG. Gain-of-function Nav1.8 mutations in painful neuropathy. Proc Natl Acad Sci 2012;109:19444-9.
-
(2012)
Proc Natl Acad Sci
, vol.109
, pp. 19444-19449
-
-
Faber, C.G.1
Lauria, G.2
Merkies, I.S.J.3
Cheng, X.4
Han, C.5
Ahn, H.S.6
Persson, A.K.7
Hoeijmakers, J.G.J.8
Gerrits, M.M.9
Pierro, T.10
Lombardi, R.11
Kapetis, D.12
Dib-Hajj, S.D.13
Waxman, S.G.14
-
87
-
-
21544455502
-
Contribution of the tetrodotoxin-resistant voltage-gated sodium channel NaV1.9 to sensory transmission and nociceptive behavior
-
Priest BT, Murphy BA, Lindia JA, Diaz C, Abbadie C, Ritter AM, Liberator P, Iyer LM, Kash SF, Kohler MG, Kaczorowski GJ, MacIntyre DE, Martin WJ. Contribution of the tetrodotoxin-resistant voltage-gated sodium channel NaV1.9 to sensory transmission and nociceptive behavior. Proc Natl Acad Sci 2005;102:9382-7.
-
(2005)
Proc Natl Acad Sci
, vol.102
, pp. 9382-9387
-
-
Priest, B.T.1
Murphy, B.A.2
Lindia, J.A.3
Diaz, C.4
Abbadie, C.5
Ritter, A.M.6
Liberator, P.7
Iyer, L.M.8
Kash, S.F.9
Kohler, M.G.10
Kaczorowski, G.J.11
MacIntyre, D.E.12
Martin, W.J.13
-
88
-
-
84901436064
-
Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy
-
Huang J, Han C, Estacion M, Vasylyev D, Hoeijmakers JGJ, Gerrits MM, Tyrrell L, Lauria G, Faber CG, Dib-Hajj SD, Merkies ISJ, Waxman SG. Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy. Brain 2014;137:1627-42.
-
(2014)
Brain
, vol.137
, pp. 1627-1642
-
-
Huang, J.1
Han, C.2
Estacion, M.3
Vasylyev, D.4
Hoeijmakers, J.G.J.5
Gerrits, M.M.6
Tyrrell, L.7
Lauria, G.8
Faber, C.G.9
Dib-Hajj, S.D.10
Merkies, I.S.J.11
Waxman, S.G.12
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