-
1
-
-
23944514748
-
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures
-
K. Kimura, T. Sugawara, and E. Mazaki-Miyazaki et al. A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures Brain Dev 27 2005 424 430
-
(2005)
Brain Dev
, vol.27
, pp. 424-430
-
-
Kimura, K.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
-
2
-
-
29144515651
-
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures
-
M. Mantegazza, A. Gambardella, and R. Rusconi et al. Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures Proc Natl Acad Sci U S A 102 2005 18177 18182
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 18177-18182
-
-
Mantegazza, M.1
Gambardella, A.2
Rusconi, R.3
-
3
-
-
31444454192
-
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
-
E. Gennaro, F.M. Santorelli, and E. Bertini et al. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy Biochem Biophys Res Commun 341 2006 489 493
-
(2006)
Biochem Biophys Res Commun
, vol.341
, pp. 489-493
-
-
Gennaro, E.1
Santorelli, F.M.2
Bertini, E.3
-
4
-
-
0034511780
-
Topiramate in the treatment of severe myoclonic epilepsy in infancy
-
M. Nieto-Barrera, R. Candau, M. Nieto-Jimenez, A. Correa, and L.R. del Portal Topiramate in the treatment of severe myoclonic epilepsy in infancy Seizure 9 2000 590 594
-
(2000)
Seizure
, vol.9
, pp. 590-594
-
-
Nieto-Barrera, M.1
Candau, R.2
Nieto-Jimenez, M.3
Correa, A.4
Del Portal, L.R.5
-
5
-
-
33750589354
-
Dravet syndrome: A study of 53 patients
-
R.H. Caraballo, and N. Fejerman Dravet syndrome: a study of 53 patients Epilepsy Res 70 2006 231 238
-
(2006)
Epilepsy Res
, vol.70
, pp. 231-238
-
-
Caraballo, R.H.1
Fejerman, N.2
-
6
-
-
77953126432
-
Effects of vaccination on onset and outcome of Dravet syndrome: A retrospective study
-
A.M. McIntosh, J. McMahon, and L.M. Dibbens et al. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study Lancet Neurol 9 2010 592 598
-
(2010)
Lancet Neurol
, vol.9
, pp. 592-598
-
-
McIntosh, A.M.1
McMahon, J.2
Dibbens, L.M.3
-
7
-
-
78651325927
-
A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome
-
B. Tro-Baumann, S. von Spiczak, and J. Lotte et al. A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome Epilepsia 52 2011 175 178
-
(2011)
Epilepsia
, vol.52
, pp. 175-178
-
-
Tro-Baumann, B.1
Von Spiczak, S.2
Lotte, J.3
-
8
-
-
78349271988
-
Vaccination and Dravet syndrome [author reply]
-
Y. Shafrir Vaccination and Dravet syndrome [author reply] Lancet Neurol 9 2010 1148 1149
-
(2010)
Lancet Neurol
, vol.9
, pp. 1148-1149
-
-
Shafrir, Y.1
-
9
-
-
0030943313
-
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
-
I.E. Scheffer, and S.F. Berkovic Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes Brain 120 1997 479 490
-
(1997)
Brain
, vol.120
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
10
-
-
67649985908
-
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
-
C. Marini, I.E. Scheffer, and R. Nabbout et al. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis Epilepsia 50 2009 1670 1678
-
(2009)
Epilepsia
, vol.50
, pp. 1670-1678
-
-
Marini, C.1
Scheffer, I.E.2
Nabbout, R.3
-
11
-
-
77955881836
-
Protocadherin 19 mutations in girls with infantile-onset epilepsy
-
C. Marini, D. Mei, and L. Parmeggiani et al. Protocadherin 19 mutations in girls with infantile-onset epilepsy Neurology 75 2010 646 653
-
(2010)
Neurology
, vol.75
, pp. 646-653
-
-
Marini, C.1
Mei, D.2
Parmeggiani, L.3
-
13
-
-
70350652814
-
Adattamento Italiano della. Scala d'Intelligenza Stanford-Binet Forma L-M nella Revisione Terman-Merril
-
A. Binet, T.H. Simon, Organizzazioni Speciali Florence, Italy
-
M.T. Bozzo, and G. Mansueto Zecca Adattamento Italiano della. Scala d'Intelligenza Stanford-Binet Forma L-M nella Revisione Terman-Merril A. Binet, T.H. Simon, Le Développement de L'intelligence chez les Enfants, vol. 14. Année Psychologique 1968 Organizzazioni Speciali Florence, Italy 1 94
-
(1968)
Le Développement de l'Intelligence Chez les Enfants, Vol. 14. Année Psychologique
, pp. 1-94
-
-
Bozzo, M.T.1
Mansueto Zecca, G.2
-
14
-
-
84857922754
-
Early clinical features in Dravet syndrome patients with and without SCN1A mutations
-
C. Petrelli, C. Passamonti, and E. Cesaroni et al. Early clinical features in Dravet syndrome patients with and without SCN1A mutations Epilepsy Res 99 2012 21 27
-
(2012)
Epilepsy Res
, vol.99
, pp. 21-27
-
-
Petrelli, C.1
Passamonti, C.2
Cesaroni, E.3
-
15
-
-
0038240713
-
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
-
L. Claes, B. Ceulemans, and D. Audenaert et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy Hum Mutat 21 2003 615 621
-
(2003)
Hum Mutat
, vol.21
, pp. 615-621
-
-
Claes, L.1
Ceulemans, B.2
Audenaert, D.3
-
16
-
-
44849099029
-
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy
-
H. Sun, Y. Zhang, and J. Liang et al. Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy Epilepsia 49 2008 1104 1107
-
(2008)
Epilepsia
, vol.49
, pp. 1104-1107
-
-
Sun, H.1
Zhang, Y.2
Liang, J.3
-
17
-
-
33947123754
-
The Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SB, Mulley JC and Scheffer IE. The spectrum of SCN1A-related infantile epileptic encephalopathies
-
L.A. Harkin, J.M. McMahon, and X. Iona et al. The Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SB, Mulley JC and Scheffer IE. The spectrum of SCN1A-related infantile epileptic encephalopathies Brain 130 2007 843 852
-
(2007)
Brain
, vol.130
, pp. 843-852
-
-
Harkin, L.A.1
McMahon, J.M.2
Iona, X.3
-
18
-
-
3242784760
-
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity
-
K. Kanai, S. Hirose, and H. Oguni et al. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity Neurology 63 2004 329 334
-
(2004)
Neurology
, vol.63
, pp. 329-334
-
-
Kanai, K.1
Hirose, S.2
Oguni, H.3
-
19
-
-
0344672944
-
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
-
T. Fujiwara, T. Sugawara, and E. Mazaki-Miyazaki et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures Brain 126 2003 531 546
-
(2003)
Brain
, vol.126
, pp. 531-546
-
-
Fujiwara, T.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
-
20
-
-
79955014000
-
Molecular genetics of Dravet syndrome
-
P. De Jonghe Molecular genetics of Dravet syndrome Dev Med Child Neurol 53 2011 7 10
-
(2011)
Dev Med Child Neurol
, vol.53
, pp. 7-10
-
-
De Jonghe, P.1
-
22
-
-
47049124205
-
Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features
-
S. Miyama, T. Goto, Y. Inoue, and K. Yamakawa Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features Pediatr Neurol 39 2008 120 122
-
(2008)
Pediatr Neurol
, vol.39
, pp. 120-122
-
-
Miyama, S.1
Goto, T.2
Inoue, Y.3
Yamakawa, K.4
-
23
-
-
33646506899
-
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: A retrospective study
-
S.F. Berkovic, L. Harkin, and J.M. McMahon et al. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study Lancet Neurol 5 2006 488 492
-
(2006)
Lancet Neurol
, vol.5
, pp. 488-492
-
-
Berkovic, S.F.1
Harkin, L.2
McMahon, J.M.3
-
24
-
-
80052362338
-
Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome
-
I.S. Reyes, D.T. Hsieh, L.C. Laux, and A.A. Wifong Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome Pediatrics 128 2011 e699 e702
-
(2011)
Pediatrics
, vol.128
-
-
Reyes, I.S.1
Hsieh, D.T.2
Laux, L.C.3
Wifong, A.A.4
-
25
-
-
84878781095
-
Prevalence of SCN1A-related Dravet syndrome among children reported with seizures following vaccination: A population-based ten-year cohort study
-
N.E. Verbeek, N.A. van der Maas, F.E. Jansen, M.J. van Kempen, D. Lindhout, and E.H. Brilstra Prevalence of SCN1A-related Dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study PLoS One 8 2013 e65758
-
(2013)
PLoS One
, vol.8
, pp. 65758
-
-
Verbeek, N.E.1
Van Der Maas, N.A.2
Jansen, F.E.3
Van Kempen, M.J.4
Lindhout, D.5
Brilstra, E.H.6
-
26
-
-
79959771826
-
Acute encephalopathy in a patient with Dravet syndrome
-
M. Tsuji, E. Mazaki, and I. Ogiwara et al. Acute encephalopathy in a patient with Dravet syndrome Neuropediatrics 42 2011 78 81
-
(2011)
Neuropediatrics
, vol.42
, pp. 78-81
-
-
Tsuji, M.1
Mazaki, E.2
Ogiwara, I.3
-
27
-
-
79958780751
-
Retrospective multi-institutional study of the prevalence of early death in Dravet syndrome
-
M. Sakauchi, H. Oguni, and I. Kato et al. Retrospective multi-institutional study of the prevalence of early death in Dravet syndrome Epilepsia 52 2011 1144 1149
-
(2011)
Epilepsia
, vol.52
, pp. 1144-1149
-
-
Sakauchi, M.1
Oguni, H.2
Kato, I.3
|