-
1
-
-
33947123754
-
The spectrum of SCN1A-related infantile epileptic encephalopathies
-
Harkin LA, McMahon JM, Iona X, et al. 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
-
2
-
-
84890167938
-
Dravet sydrome (severe myoclonic epilepsy in infancy)
-
In: Bureau M, Genton P, Dravet C, editors., 5th edn. Paris: John Libbey Eurotext
-
Dravet C, Bureau M, Oguni H, Cokar O, Guerrini R. Dravet sydrome (severe myoclonic epilepsy in infancy). In: Bureau M, Genton P, Dravet C, et al., editors. Epileptic Syndromes in Infancy, Childhood and Adolescence, 5th edn. Paris: John Libbey Eurotext, 2012: 125-56.
-
(2012)
Epileptic Syndromes in Infancy, Childhood and Adolescence
, pp. 125-156
-
-
Dravet, C.1
Bureau, M.2
Oguni, H.3
Cokar, O.4
Guerrini, R.5
-
3
-
-
79953726784
-
The core Dravet syndrome phenotype
-
Dravet C. The core Dravet syndrome phenotype. Epilepsia 2011; 52(Suppl. 2): 3-9.
-
(2011)
Epilepsia
, vol.52
, Issue.SUPPL. 2
, pp. 3-9
-
-
Dravet, C.1
-
4
-
-
79953698195
-
Dravet syndrome: the long-term outcome
-
Genton P, Velizarova R, Dravet C. Dravet syndrome: the long-term outcome. Epilepsia 2011; 52(Suppl. 2): 44-9.
-
(2011)
Epilepsia
, vol.52
, Issue.SUPPL. 2
, pp. 44-49
-
-
Genton, P.1
Velizarova, R.2
Dravet, C.3
-
5
-
-
84864704934
-
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
-
Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain 2012; 135: 2329-36.
-
(2012)
Brain
, vol.135
, pp. 2329-2336
-
-
Brunklaus, A.1
Ellis, R.2
Reavey, E.3
Forbes, G.H.4
Zuberi, S.M.5
-
6
-
-
33749019686
-
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A
-
Mulley JC, Nelson P, Guerrero S, et al. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology 2006; 67: 1094-5.
-
(2006)
Neurology
, vol.67
, pp. 1094-1095
-
-
Mulley, J.C.1
Nelson, P.2
Guerrero, S.3
-
7
-
-
84863802044
-
Progressive gait deterioration in adolescents with Dravet syndrome
-
Rodda JM, Scheffer IE, McMahon JM, Berkovic SF, Graham HK. Progressive gait deterioration in adolescents with Dravet syndrome. Arch Neurol 2012; 69: 873-8.
-
(2012)
Arch Neurol
, vol.69
, pp. 873-878
-
-
Rodda, J.M.1
Scheffer, I.E.2
McMahon, J.M.3
Berkovic, S.F.4
Graham, H.K.5
-
8
-
-
79951678915
-
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients
-
Ragona F, Granata T, Dalla Bernardina B, et al. Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. Epilepsia 2011; 52: 386-92.
-
(2011)
Epilepsia
, vol.52
, pp. 386-392
-
-
Ragona, F.1
Granata, T.2
Dalla Bernardina, B.3
-
9
-
-
10744227466
-
+ channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
-
+ channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 2004; 45: 140-8.
-
(2004)
Epilepsia
, vol.45
, pp. 140-148
-
-
Fukuma, G.1
Oguni, H.2
Shirasaka, Y.3
-
10
-
-
78650514721
-
Early development in Dravet syndrome; visual function impairment precedes cognitive decline
-
Chieffo D, Ricci D, Baranello G, et al. Early development in Dravet syndrome; visual function impairment precedes cognitive decline. Epilepsy Res 2011; 93: 73-9.
-
(2011)
Epilepsy Res
, vol.93
, pp. 73-79
-
-
Chieffo, D.1
Ricci, D.2
Baranello, G.3
-
11
-
-
77957365024
-
Timing of de novo mutagenesis - a twin study of sodium-channel mutations
-
Vadlamudi L, Dibbens LM, Lawrence KM, et al. Timing of de novo mutagenesis - a twin study of sodium-channel mutations. N Engl J Med 2010; 363: 1335-40.
-
(2010)
N Engl J Med
, vol.363
, pp. 1335-1340
-
-
Vadlamudi, L.1
Dibbens, L.M.2
Lawrence, K.M.3
-
12
-
-
79955752768
-
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy
-
Freilich ER, Jones JM, Gaillard WD, et al. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol 2011; 68: 665-71.
-
(2011)
Arch Neurol
, vol.68
, pp. 665-671
-
-
Freilich, E.R.1
Jones, J.M.2
Gaillard, W.D.3
-
13
-
-
80051530016
-
De novo SCN1A mutations in migrating partial seizures of infancy
-
Carranza Rojo D, Hamiwka L, McMahon JM, et al. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology 2011; 77: 380-3.
-
(2011)
Neurology
, vol.77
, pp. 380-383
-
-
Carranza Rojo, D.1
Hamiwka, L.2
McMahon, J.M.3
-
14
-
-
65549152163
-
Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology
-
Coppola G. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia 2009; 50(Suppl. 5): 49-51.
-
(2009)
Epilepsia
, vol.50
, Issue.SUPPL. 5
, pp. 49-51
-
-
Coppola, G.1
-
15
-
-
0029088705
-
Migrating partial seizures in infancy: a malignant disorder with developmental arrest
-
Coppola G, Plouin P, Chiron C, Robain O, Dulac O. Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia 1995; 36: 1017-24.
-
(1995)
Epilepsia
, vol.36
, pp. 1017-1024
-
-
Coppola, G.1
Plouin, P.2
Chiron, C.3
Robain, O.4
Dulac, O.5
-
16
-
-
0035956488
-
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
-
Abou-Khalil B, Ge Q, Desai R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 2001; 57: 2265-72.
-
(2001)
Neurology
, vol.57
, pp. 2265-2272
-
-
Abou-Khalil, B.1
Ge, Q.2
Desai, R.3
-
17
-
-
64249109642
-
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus
-
Livingston JH, Cross JH, McLellan A, Birch R, Zuberi SM. A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. J Child Neurol 2009; 24: 503-8.
-
(2009)
J Child Neurol
, vol.24
, pp. 503-508
-
-
Livingston, J.H.1
Cross, J.H.2
McLellan, A.3
Birch, R.4
Zuberi, S.M.5
-
18
-
-
33750593341
-
Multiple independent spike foci and epilepsy, with special reference to a new epileptic syndrome of "severe epilepsy with multiple independent spike foci"
-
Yamatogi Y, Ohtahara S. Multiple independent spike foci and epilepsy, with special reference to a new epileptic syndrome of "severe epilepsy with multiple independent spike foci". Epilepsy Res 2006; 70(Suppl. 1): S96-104.
-
(2006)
Epilepsy Res
, vol.70
, Issue.SUPPL. 1
-
-
Yamatogi, Y.1
Ohtahara, S.2
-
19
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000; 24: 343-5.
-
(2000)
Nat Genet
, vol.24
, pp. 343-345
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
-
20
-
-
0035074294
-
Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus
-
Wallace RH, Scheffer IE, Barnett S, et al. Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001; 68: 859-65.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 859-865
-
-
Wallace, R.H.1
Scheffer, I.E.2
Barnett, S.3
|