-
1
-
-
0037398465
-
The epidemiology of epilepsy revisited
-
Sander JW,. The epidemiology of epilepsy revisited. Curr Opin Neurol 2003; 16: 165-170.
-
(2003)
Curr Opin Neurol
, vol.16
, pp. 165-170
-
-
Sander, J.W.1
-
2
-
-
61349112746
-
Period prevalence of epilepsy in children in BC: A population-based study
-
Schiariti V, Farrell K, Hoube JS, et al. Period prevalence of epilepsy in children in BC: a population-based study. Can J Neurol Sci 2009; 36: 36-41.
-
(2009)
Can J Neurol Sci
, vol.36
, pp. 36-41
-
-
Schiariti, V.1
Farrell, K.2
Hoube, J.S.3
-
3
-
-
33646238934
-
Cognitive effects of seizures
-
Vingerhoets G,. Cognitive effects of seizures. Seizure 2006; 15: 221-226.
-
(2006)
Seizure
, vol.15
, pp. 221-226
-
-
Vingerhoets, G.1
-
4
-
-
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
-
5
-
-
39149136856
-
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
-
Holland KD, Kearney JA, Glauser TA, et al. 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
-
6
-
-
79959945227
-
Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3
-
Okumura A, Yamamoto T, Shimojima K, et al. Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3. Epilepsia 2011; 52: e66-e69.
-
(2011)
Epilepsia
, vol.52
, pp. e66-e69
-
-
Okumura, A.1
Yamamoto, T.2
Shimojima, K.3
-
7
-
-
63449107353
-
Voltage-gated sodium channels in pain states: Role in pathophysiology and targets for treatment
-
Dib-Hajj SD, Binshtok AM, Cummins TR, et al. Voltage-gated sodium channels in pain states: role in pathophysiology and targets for treatment. Brain Res Rev 2009; 60: 65-83.
-
(2009)
Brain Res Rev
, vol.60
, pp. 65-83
-
-
Dib-Hajj, S.D.1
Binshtok, A.M.2
Cummins, T.R.3
-
9
-
-
84855417355
-
Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations
-
Bechi G, Scalmani P, Schiavon E, et al. Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. Epilepsia 2012; 53: 87-100.
-
(2012)
Epilepsia
, vol.53
, pp. 87-100
-
-
Bechi, G.1
Scalmani, P.2
Schiavon, E.3
-
10
-
-
68549090915
-
Severe epilepsy syndromes of early childhood: The link between genetics and pathophysiology with a focus on SCN1A mutations
-
Stafstrom CE,. Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. J Child Neurol 2009; 24: 15S-23S.
-
(2009)
J Child Neurol
, vol.24
, pp. 15S-23S
-
-
Stafstrom, C.E.1
-
11
-
-
58149326824
-
Inherited neuronal ion channelopathies: New windows on complex neurological diseases
-
Catterall WA, Dib-Hajj S, Meisler MH, et al. Inherited neuronal ion channelopathies: new windows on complex neurological diseases. J Neurosci 2008; 28: 11768-11777.
-
(2008)
J Neurosci
, vol.28
, pp. 11768-11777
-
-
Catterall, W.A.1
Dib-Hajj, S.2
Meisler, M.H.3
-
12
-
-
84927771862
-
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders
-
Vaher U, Noukas M, Nikopensius T, et al. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. J Child Neurol 2013; 29: NP202-206.
-
(2013)
J Child Neurol
, vol.29
, pp. NP202-NP206
-
-
Vaher, U.1
Noukas, M.2
Nikopensius, T.3
-
13
-
-
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, et al. 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: 502-510.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 502-510
-
-
Veeramah, K.R.1
O'Brien, J.E.2
Meisler, M.H.3
-
14
-
-
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
-
15
-
-
84904392275
-
Early onset epileptic encephalopathy caused by de novo SCN8A mutations
-
Ohba C, Kato M, Takahashi S, et al. 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
-
16
-
-
84902106984
-
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
-
Estacion M, O'Brien JE, Conravey A, et al. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis 2014; 69: 117-123.
-
(2014)
Neurobiol Dis
, vol.69
, pp. 117-123
-
-
Estacion, M.1
O'Brien, J.E.2
Conravey, A.3
-
17
-
-
84856356730
-
Unifying the definitions of sudden unexpected death in epilepsy
-
Nashef L, So EL, Ryvlin P, et al. Unifying the definitions of sudden unexpected death in epilepsy. Epilepsia 2012; 53: 227-233.
-
(2012)
Epilepsia
, vol.53
, pp. 227-233
-
-
Nashef, L.1
So, E.L.2
Ryvlin, P.3
-
18
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
Allen AS, Berkovic SF, Cossette P, et al. De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221.
-
(2013)
Nature
, vol.501
, pp. 217-221
-
-
Allen, A.S.1
Berkovic, S.F.2
Cossette, P.3
-
19
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
-
Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674-1682.
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
Wieczorek, D.2
Graf, E.3
-
20
-
-
0037264170
-
Overview of the voltage-gated sodium channel family
-
Yu FH, Catterall WA,. Overview of the voltage-gated sodium channel family. Genome Biol 2003; 4: 207.
-
(2003)
Genome Biol
, vol.4
, pp. 207
-
-
Yu, F.H.1
Catterall, W.A.2
-
21
-
-
84858282800
-
Genetic testing in epilepsy: What should you be doing?
-
Scheffer IE,. Genetic testing in epilepsy: what should you be doing? Epilepsy Curr 2011; 11: 107-111.
-
(2011)
Epilepsy Curr
, vol.11
, pp. 107-111
-
-
Scheffer, I.E.1
-
22
-
-
84922475507
-
Convulsive seizures and SUDEP in a mouse model of SCN8A related epileptic encephalopathy
-
Wagnon JL, Korn MJ, Parent R, et al. Convulsive seizures and SUDEP in a mouse model of SCN8A related epileptic encephalopathy. Hum Mol Genet 2014; 24: 506-515.
-
(2014)
Hum Mol Genet
, vol.24
, pp. 506-515
-
-
Wagnon, J.L.1
Korn, M.J.2
Parent, R.3
-
23
-
-
84864704934
-
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
-
Brunklaus A, Ellis R, Reavey E, et al. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain 2012; 135: 2329-2336.
-
(2012)
Brain
, vol.135
, pp. 2329-2336
-
-
Brunklaus, A.1
Ellis, R.2
Reavey, E.3
-
24
-
-
84904507658
-
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
-
Xu X, Zhang Y, Sun H, et al. Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. Brain Dev 2014; 36: 676-681.
-
(2014)
Brain Dev
, vol.36
, pp. 676-681
-
-
Xu, X.1
Zhang, Y.2
Sun, H.3
-
25
-
-
58149393984
-
Cell-type-dependent molecular composition of the axon initial segment
-
Lorincz A, Nusser Z,. Cell-type-dependent molecular composition of the axon initial segment. J Neurosci 2008; 28: 14329-14340.
-
(2008)
J Neurosci
, vol.28
, pp. 14329-14340
-
-
Lorincz, A.1
Nusser, Z.2
-
26
-
-
33845567864
-
Polarized distribution of ion channels within microdomains of the axon initial segment
-
Van Wart A, Trimmer JS, Matthews G,. Polarized distribution of ion channels within microdomains of the axon initial segment. J Comp Neurol 2007; 500: 339-352.
-
(2007)
J Comp Neurol
, vol.500
, pp. 339-352
-
-
Van Wart, A.1
Trimmer, J.S.2
Matthews, G.3
-
27
-
-
68149161179
-
Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation
-
Hu W, Tian C, Li T, et al. Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation. Nat Neurosci 2009; 12: 996-1002.
-
(2009)
Nat Neurosci
, vol.12
, pp. 996-1002
-
-
Hu, W.1
Tian, C.2
Li, T.3
-
28
-
-
84872007728
-
Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice
-
Sun W, Wagnon JL, Mahaffey CL, et al. Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice. J Physiol 2013; 591: 241-255.
-
(2013)
J Physiol
, vol.591
, pp. 241-255
-
-
Sun, W.1
Wagnon, J.L.2
Mahaffey, C.L.3
-
29
-
-
33644778810
-
Sudden unexpected death in epilepsy: A review of incidence and risk factors
-
Tomson T, Walczak T, Sillanpaa M, et al. Sudden unexpected death in epilepsy: a review of incidence and risk factors. Epilepsia 2005; 46 (Suppl. 11): 54-61.
-
(2005)
Epilepsia
, vol.46
, pp. 54-61
-
-
Tomson, T.1
Walczak, T.2
Sillanpaa, M.3
-
30
-
-
0037133689
-
An unexpected role for brain-type sodium channels in coupling of cell surface depolarization to contraction in the heart
-
Maier SK, Westenbroek RE, Schenkman KA, et al. An unexpected role for brain-type sodium channels in coupling of cell surface depolarization to contraction in the heart. Proc Natl Acad Sci U.S.A. 2002; 99: 4073-4078.
-
(2002)
Proc Natl Acad Sci U.S.A.
, vol.99
, pp. 4073-4078
-
-
Maier, S.K.1
Westenbroek, R.E.2
Schenkman, K.A.3
-
31
-
-
18944391183
-
Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart
-
Haufe V, Camacho JA, Dumaine R, et al. Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart. J Physiol 2005; 564: 683-696.
-
(2005)
J Physiol
, vol.564
, pp. 683-696
-
-
Haufe, V.1
Camacho, J.A.2
Dumaine, R.3
-
32
-
-
84855374966
-
A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart
-
Noujaim SF, Kaur K, Milstein M, et al. A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart. FASEB J 2012; 26: 63-72.
-
(2012)
FASEB J
, vol.26
, pp. 63-72
-
-
Noujaim, S.F.1
Kaur, K.2
Milstein, M.3
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