-
1
-
-
1842850796
-
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy 5
-
Ceulemans B.P., Claes L.R., and Lagae L.G. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy 5. Pediatr. Neurol. 30 (2004) 236-243
-
(2004)
Pediatr. Neurol.
, vol.30
, pp. 236-243
-
-
Ceulemans, B.P.1
Claes, L.R.2
Lagae, L.G.3
-
2
-
-
5444259262
-
A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia 1
-
Chang C.C., Acharfi S., Wu M.H., Chiang F.T., Wang J.K., Sung T.C., and Chahine M. A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia 1. Cardiovasc. Res. 64 (2004) 268-278
-
(2004)
Cardiovasc. Res.
, vol.64
, pp. 268-278
-
-
Chang, C.C.1
Acharfi, S.2
Wu, M.H.3
Chiang, F.T.4
Wang, J.K.5
Sung, T.C.6
Chahine, M.7
-
3
-
-
0037025371
-
A "minimal" sodium channel construct consisting of ligated S5-P-S6 segments forms a toxin-activatable ionophore
-
Chen Z., Alcayaga C., Suarez-Isla B.A., O'Rourke B., Tomaselli G., and Marban E. A "minimal" sodium channel construct consisting of ligated S5-P-S6 segments forms a toxin-activatable ionophore. J. Biol. Chem. 277 (2002) 24653-24658
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 24653-24658
-
-
Chen, Z.1
Alcayaga, C.2
Suarez-Isla, B.A.3
O'Rourke, B.4
Tomaselli, G.5
Marban, E.6
-
4
-
-
0035882277
-
Nav1.3 sodium channels: rapid repriming and slow closed-state inactivation display quantitative differences after expression in a mammalian cell line and in spinal sensory neurons
-
Cummins T.R., Aglieco F., Renganathan M., Herzog R.I., Dib-Hajj S.D., and Waxman S.G. Nav1.3 sodium channels: rapid repriming and slow closed-state inactivation display quantitative differences after expression in a mammalian cell line and in spinal sensory neurons. J. Neurosci. 21 (2001) 5952-5961
-
(2001)
J. Neurosci.
, vol.21
, pp. 5952-5961
-
-
Cummins, T.R.1
Aglieco, F.2
Renganathan, M.3
Herzog, R.I.4
Dib-Hajj, S.D.5
Waxman, S.G.6
-
5
-
-
23044459961
-
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine 1
-
Dichgans M., Freilinger T., Eckstein G., Babini E., Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J., van den Maagdenberg A.M., Pusch M., and Strom T.M. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine 1. Lancet 366 (2005) 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
-
6
-
-
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 B.T., Haug K., Sander T., and Meisler M.H. 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 (2001) 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
-
7
-
-
0034069651
-
Mutations of 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., and Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24 (2000) 343-345
-
(2000)
Nat. 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
Brice, A.7
LeGuern, E.8
Moulard, B.9
Chaigne, D.10
Buresi, C.11
Malafosse, A.12
-
8
-
-
23644433670
-
Inherited disorders of voltage-gated sodium channels
-
George Jr. A.L. Inherited disorders of voltage-gated sodium channels. J. Clin. Invest. 115 (2005) 1990-1999
-
(2005)
J. Clin. Invest.
, vol.115
, pp. 1990-1999
-
-
George Jr., A.L.1
-
9
-
-
0036171019
-
Factors affecting the yield of pediatric EEGs in clinical practice 1
-
Gilbert D.L., and Gartside P.S. Factors affecting the yield of pediatric EEGs in clinical practice 1. Clin. Pediatr. (Phila) 41 (2002) 25-32
-
(2002)
Clin. Pediatr. (Phila)
, vol.41
, pp. 25-32
-
-
Gilbert, D.L.1
Gartside, P.S.2
-
10
-
-
0035050571
-
Resurgence of sodium channel research 4
-
Goldin A.L. Resurgence of sodium channel research 4. Annu. Rev. Physiol. 63 (2001) 871-894
-
(2001)
Annu. Rev. Physiol.
, vol.63
, pp. 871-894
-
-
Goldin, A.L.1
-
11
-
-
18844468798
-
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions 3
-
Hirose S., Zenri F., Akiyoshi H., Fukuma G., Iwata H., Inoue T., Yonetani M., Tsutsumi M., Muranaka H., Kurokawa T., Hanai T., Wada K., Kaneko S., and Mitsudome A. A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions 3. Ann. Neurol. 47 (2000) 822-826
-
(2000)
Ann. Neurol.
, vol.47
, pp. 822-826
-
-
Hirose, S.1
Zenri, F.2
Akiyoshi, H.3
Fukuma, G.4
Iwata, H.5
Inoue, T.6
Yonetani, M.7
Tsutsumi, M.8
Muranaka, H.9
Kurokawa, T.10
Hanai, T.11
Wada, K.12
Kaneko, S.13
Mitsudome, A.14
-
12
-
-
3242784760
-
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity 4
-
Kanai K., Hirose S., Oguni H., Fukuma G., Shirasaka Y., Miyajima T., Wada K., Iwasa H., Yasumoto S., Matsuo M., Ito M., Mitsudome A., and Kaneko S. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity 4. Neurology 63 (2004) 329-334
-
(2004)
Neurology
, vol.63
, pp. 329-334
-
-
Kanai, K.1
Hirose, S.2
Oguni, H.3
Fukuma, G.4
Shirasaka, Y.5
Miyajima, T.6
Wada, K.7
Iwasa, H.8
Yasumoto, S.9
Matsuo, M.10
Ito, M.11
Mitsudome, A.12
Kaneko, S.13
-
13
-
-
0035863416
-
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities 1
-
Kearney J.A., Plummer N.W., Smith M.R., Kapur J., Cummins T.R., Waxman S.G., Goldin A.L., and Meisler M.H. A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities 1. Neuroscience 102 (2001) 307-317
-
(2001)
Neuroscience
, vol.102
, pp. 307-317
-
-
Kearney, J.A.1
Plummer, N.W.2
Smith, M.R.3
Kapur, J.4
Cummins, T.R.5
Waxman, S.G.6
Goldin, A.L.7
Meisler, M.H.8
-
14
-
-
22544432881
-
Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations 2
-
Keller D.I., Rougier J.S., Kucera J.P., Benammar N., Fressart V., Guicheney P., Madle A., Fromer M., Schlapfer J., and Abriel H. Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations 2. Cardiovasc. Res. 67 (2005) 510-519
-
(2005)
Cardiovasc. Res.
, vol.67
, pp. 510-519
-
-
Keller, D.I.1
Rougier, J.S.2
Kucera, J.P.3
Benammar, N.4
Fressart, V.5
Guicheney, P.6
Madle, A.7
Fromer, M.8
Schlapfer, J.9
Abriel, H.10
-
15
-
-
0029789472
-
A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting
-
Kohrman D.C., Smith M.R., Goldin A.L., Harris J., and Meisler M.H. A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J. Neurosci. 16 (1996) 5993-5999
-
(1996)
J. Neurosci.
, vol.16
, pp. 5993-5999
-
-
Kohrman, D.C.1
Smith, M.R.2
Goldin, A.L.3
Harris, J.4
Meisler, M.H.5
-
16
-
-
0034598762
-
Early identification of refractory epilepsy
-
Kwan P., and Brodie M.J. Early identification of refractory epilepsy. N. Engl. J. Med. 342 (2000) 314-319
-
(2000)
N. Engl. J. Med.
, vol.342
, pp. 314-319
-
-
Kwan, P.1
Brodie, M.J.2
-
17
-
-
0347479237
-
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A 2
-
Lossin C., Rhodes T.H., Desai R.R., Vanoye C.G., Wang D., Carniciu S., Devinsky O., and George Jr. A.L. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A 2. J. Neurosci. 23 (2003) 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
-
18
-
-
0037071896
-
Molecular basis of an inherited epilepsy 1
-
Lossin C., Wang D.W., Rhodes T.H., Vanoye C.G., and George Jr. A.L. Molecular basis of an inherited epilepsy 1. Neuron 34 (2002) 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
-
-
23644439941
-
Sodium channel mutations in epilepsy and other neurological disorders 1
-
Meisler M.H., and Kearney J.A. Sodium channel mutations in epilepsy and other neurological disorders 1. J. Clin. Invest. 115 (2005) 2010-2017
-
(2005)
J. Clin. Invest.
, vol.115
, pp. 2010-2017
-
-
Meisler, M.H.1
Kearney, J.A.2
-
20
-
-
21444436318
-
Outcomes in newly diagnosed localization-related epilepsies 7
-
Mohanraj R., and Brodie M.J. Outcomes in newly diagnosed localization-related epilepsies 7. Seizure 14 (2005) 318-323
-
(2005)
Seizure
, vol.14
, pp. 318-323
-
-
Mohanraj, R.1
Brodie, M.J.2
-
21
-
-
33644895434
-
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
-
Rainier S., Sher C., Reish O., Thomas D., and Fink J.K. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch. Neurol. 63 (2006) 445-447
-
(2006)
Arch. Neurol.
, vol.63
, pp. 445-447
-
-
Rainier, S.1
Sher, C.2
Reish, O.3
Thomas, D.4
Fink, J.K.5
-
22
-
-
3342929286
-
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy 1
-
Rhodes T.H., Lossin C., Vanoye C.G., Wang D.W., and George Jr. A.L. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy 1. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 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
-
23
-
-
0038606473
-
Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine response 1
-
Rodrigues-Pinguet N., Jia L., Li M., Figl A., Klaassen A., Truong A., Lester H.A., and Cohen B.N. Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine response 1. J. Physiol. 550 (2003) 11-26
-
(2003)
J. Physiol.
, vol.550
, pp. 11-26
-
-
Rodrigues-Pinguet, N.1
Jia, L.2
Li, M.3
Figl, A.4
Klaassen, A.5
Truong, A.6
Lester, H.A.7
Cohen, B.N.8
-
24
-
-
33749515473
-
Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures 1
-
Scalmani P., Rusconi R., Armatura E., Zara F., Avanzini G., Franceschetti S., and Mantegazza M. Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures 1. J. Neurosci. 26 (2006) 10100-10109
-
(2006)
J. Neurosci.
, vol.26
, pp. 10100-10109
-
-
Scalmani, P.1
Rusconi, R.2
Armatura, E.3
Zara, F.4
Avanzini, G.5
Franceschetti, S.6
Mantegazza, M.7
-
25
-
-
1542375174
-
Structural effects of an LQT-3 mutation on heart Na+ channel gating 1
-
Tateyama M., Liu H., Yang A.S., Cormier J.W., and Kass R.S. Structural effects of an LQT-3 mutation on heart Na+ channel gating 1. Biophys. J. 86 (2004) 1843-1851
-
(2004)
Biophys. J.
, vol.86
, pp. 1843-1851
-
-
Tateyama, M.1
Liu, H.2
Yang, A.S.3
Cormier, J.W.4
Kass, R.S.5
-
26
-
-
0036063688
-
A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine 2
-
Valdivia C.R., Ackerman M.J., Tester D.J., Wada T., McCormack J., Ye B., and Makielski J.C. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine 2. Cardiovasc. Res. 55 (2002) 279-289
-
(2002)
Cardiovasc. Res.
, vol.55
, pp. 279-289
-
-
Valdivia, C.R.1
Ackerman, M.J.2
Tester, D.J.3
Wada, T.4
McCormack, J.5
Ye, B.6
Makielski, J.C.7
-
27
-
-
34250652921
-
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online 2
-
Vanmolkot K.R., Babini E., de V.B., Stam A.H., Freilinger T., Terwindt G.M., Norris L., Haan J., Frants R.R., Ramadan N.M., Ferrari M.D., Pusch M., van den Maagdenberg A.M., and Dichgans M. The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online 2. Hum. Mutat. 28 (2007) 522
-
(2007)
Hum. Mutat.
, vol.28
, pp. 522
-
-
Vanmolkot, K.R.1
Babini, E.2
de, V.B.3
Stam, A.H.4
Freilinger, T.5
Terwindt, G.M.6
Norris, L.7
Haan, J.8
Frants, R.R.9
Ramadan, N.M.10
Ferrari, M.D.11
Pusch, M.12
van den Maagdenberg, A.M.13
Dichgans, M.14
-
28
-
-
0042384619
-
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms 8
-
Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R., Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M., Yamamoto T., Andermann E., Mulley J.C., Berkovic S.F., and Scheffer I.E. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms 8. Neurology 61 (2003) 765-769
-
(2003)
Neurology
, vol.61
, pp. 765-769
-
-
Wallace, R.H.1
Hodgson, B.L.2
Grinton, B.E.3
Gardiner, R.M.4
Robinson, R.5
Rodriguez-Casero, V.6
Sadleir, L.7
Morgan, J.8
Harkin, L.A.9
Dibbens, L.M.10
Yamamoto, T.11
Andermann, E.12
Mulley, J.C.13
Berkovic, S.F.14
Scheffer, I.E.15
-
29
-
-
0032897169
-
Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia 8
-
Wang D.W., VanDeCarr D., Ruben P.C., George Jr. A.L., and Bennett P.B. Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia 8. FEBS Lett. 448 (1999) 231-234
-
(1999)
FEBS Lett.
, vol.448
, pp. 231-234
-
-
Wang, D.W.1
VanDeCarr, D.2
Ruben, P.C.3
George Jr., A.L.4
Bennett, P.B.5
-
30
-
-
0029825614
-
Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome 10
-
Wang D.W., Yazawa K., George Jr. A.L., and Bennett P.B. Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome 10. Proc. Natl. Acad. Sci. U.S.A. 93 (1996) 13200-13205
-
(1996)
Proc. Natl. Acad. Sci. U.S.A.
, vol.93
, pp. 13200-13205
-
-
Wang, D.W.1
Yazawa, K.2
George Jr., A.L.3
Bennett, P.B.4
-
31
-
-
0037222315
-
Sodium channels SCN1A, SCN2A and SCN3A in familial autism 1
-
Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M., Reichert J., Buxbaum J.D., and Meisler M.H. Sodium channels SCN1A, SCN2A and SCN3A in familial autism 1. Mol. Psychiatry 8 (2003) 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
-
32
-
-
0035977980
-
Comparative distribution of voltage-gated sodium channel proteins in human brain
-
Whitaker W.R., Faull R.L., Waldvogel H.J., Plumpton C.J., Emson P.C., and Clare J.J. Comparative distribution of voltage-gated sodium channel proteins in human brain. Brain Res. Mol. Brain Res. 88 (2001) 37-53
-
(2001)
Brain Res. Mol. Brain Res.
, vol.88
, pp. 37-53
-
-
Whitaker, W.R.1
Faull, R.L.2
Waldvogel, H.J.3
Plumpton, C.J.4
Emson, P.C.5
Clare, J.J.6
-
33
-
-
0035808309
-
Molecular determinants of voltage-dependent gating and binding of pore-blocking drugs in transmembrane segment IIIS6 of the Na(+) channel alpha subunit
-
Yarov-Yarovoy V., Brown J., Sharp E.M., Clare J.J., Scheuer T., and Catterall W.A. Molecular determinants of voltage-dependent gating and binding of pore-blocking drugs in transmembrane segment IIIS6 of the Na(+) channel alpha subunit. J. Biol. Chem. 276 (2001) 20-27
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 20-27
-
-
Yarov-Yarovoy, V.1
Brown, J.2
Sharp, E.M.3
Clare, J.J.4
Scheuer, T.5
Catterall, W.A.6
-
34
-
-
0034961539
-
Utility of the scalp-recorded ictal EEG in childhood epilepsy
-
Yoshinaga H., Hattori J., Ohta H., Asano T., Ogino T., Kobayashi K., and Oka E. Utility of the scalp-recorded ictal EEG in childhood epilepsy. Epilepsia 42 (2001) 772-777
-
(2001)
Epilepsia
, vol.42
, pp. 772-777
-
-
Yoshinaga, H.1
Hattori, J.2
Ohta, H.3
Asano, T.4
Ogino, T.5
Kobayashi, K.6
Oka, E.7
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