-
1
-
-
0000737282
-
Les epilepsies graves de l'enfant
-
C. Dravet Les epilepsies graves de l'enfant Vie Med 8 1978 543 548
-
(1978)
Vie Med
, vol.8
, pp. 543-548
-
-
Dravet, C.1
-
2
-
-
33747155290
-
Severe myoclonic epilepsy in infancy (Dravet syndrome)
-
B.M. Dravet Ch, H. Oguni, Y. Fukuyama, and O. Cokar Severe myoclonic epilepsy in infancy (Dravet syndrome) J.B.M. Roger, C.H. Dravet, P. Genton, C.A. Tassinari, P. Wolf, Epileptic syndromes in infancy, childhood and adolescence 4th ed. 2005 John Libbey Eurotext Montrouge 89 113
-
(2005)
Epileptic Syndromes in Infancy, Childhood and Adolescence
, pp. 89-113
-
-
Dravet Ch, B.M.1
Oguni, H.2
Fukuyama, Y.3
Cokar, O.4
-
3
-
-
0031671808
-
Severe idiopathic generalised epilepsy of infancy with generalised tonic-clonic seizures
-
H. Doose, H. Lunau, E. Castiglione, and S. Waltz Severe idiopathic generalised epilepsy of infancy with generalised tonic-clonic seizures Neuropediatrics 29 1998 229 238
-
(1998)
Neuropediatrics
, vol.29
, pp. 229-238
-
-
Doose, H.1
Lunau, H.2
Castiglione, E.3
Waltz, S.4
-
4
-
-
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 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
-
5
-
-
33947123754
-
The spectrum of SCN1A-related infantile epileptic encephalopathies
-
L.A. Harkin, J.M. McMahon, and X. Iona 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
-
6
-
-
10744227466
-
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
-
G. Fukuma, H. Oguni, and Y. Shirasaka Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB) Epilepsia 45 2004 140 148
-
(2004)
Epilepsia
, vol.45
, pp. 140-148
-
-
Fukuma, G.1
Oguni, H.2
Shirasaka, Y.3
-
7
-
-
34249774883
-
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
-
P. Striano, M. Mancardi, and R. Biancheri Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations Epilepsia 48 2007 1092 1096
-
(2007)
Epilepsia
, vol.48
, pp. 1092-1096
-
-
Striano, P.1
Mancardi, M.2
Biancheri, R.3
-
8
-
-
18244395319
-
Hippocampal sclerosis in severe myoclonic epilepsy in infancy: A retrospective MRI study
-
Z. Siegler, P. Barsi, and M. Neuwirth Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study Epilepsia 46 2005 704 708
-
(2005)
Epilepsia
, vol.46
, pp. 704-708
-
-
Siegler, Z.1
Barsi, P.2
Neuwirth, M.3
-
9
-
-
62149088190
-
Spectrum of SCN1A gene mutations associated with Dravet syndrome: Analysis of 333 patients
-
C. Depienne, O. Trouillard, and C. Saint-Martin Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients J Med Genet 46 2009 183 191
-
(2009)
J Med Genet
, vol.46
, pp. 183-191
-
-
Depienne, C.1
Trouillard, O.2
Saint-Martin, C.3
-
10
-
-
33749019686
-
A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A
-
J.C. Mulley, P. Nelson, and S. Guerrero A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A Neurology 67 2006 1094 1095
-
(2006)
Neurology
, vol.67
, pp. 1094-1095
-
-
Mulley, J.C.1
Nelson, P.2
Guerrero, S.3
-
11
-
-
33748339365
-
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients
-
A. Suls, K.G. Claeys, and D. Goossens Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients Hum Mutat 27 2006 914 920
-
(2006)
Hum Mutat
, vol.27
, pp. 914-920
-
-
Suls, A.1
Claeys, K.G.2
Goossens, D.3
-
12
-
-
67649985908
-
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
-
C. Marini, I.E. Scheffer, and R. Nabbout 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
-
13
-
-
79951640921
-
Genotype-phenotype associations in SCN1A-related epilepsies
-
S.M. Zuberi, A. Brunklaus, R. Birch, E. Reavey, J. Duncan, and G.H. Forbes Genotype-phenotype associations in SCN1A-related epilepsies Neurology 76 2011 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
-
14
-
-
10744226685
-
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
-
R. Nabbout, E. Gennaro, and B. Dalla Bernardina Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy Neurology 60 2003 1961 1967
-
(2003)
Neurology
, vol.60
, pp. 1961-1967
-
-
Nabbout, R.1
Gennaro, E.2
Dalla Bernardina, B.3
-
15
-
-
77953701040
-
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
-
C. Depienne, O. Trouillard, and I. Gourfinkel-An Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome J Med Genet 47 2010 404 410
-
(2010)
J Med Genet
, vol.47
, pp. 404-410
-
-
Depienne, C.1
Trouillard, O.2
Gourfinkel-An, I.3
-
16
-
-
33749678419
-
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy
-
Morimoto, E. Mazaki, and A. Nishimura SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy Epilepsia 47 2006 1732 1736
-
(2006)
Epilepsia
, vol.47
, pp. 1732-1736
-
-
Morimoto1
Mazaki, E.2
Nishimura, A.3
-
17
-
-
31444454192
-
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
-
E. Gennaro, F.M. Santorelli, and E. Bertini 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
-
18
-
-
33749675112
-
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
-
C. Depienne, A. Arzimanoglou, and O. Trouillard Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy Hum Mutat 27 2006 389
-
(2006)
Hum Mutat
, vol.27
, pp. 389
-
-
Depienne, C.1
Arzimanoglou, A.2
Trouillard, O.3
-
19
-
-
33749661352
-
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy
-
C. Marini, D. Mei, J. Helen Cross, and R. Guerrini Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy Epilepsia 47 2006 1737 1740
-
(2006)
Epilepsia
, vol.47
, pp. 1737-1740
-
-
Marini, C.1
Mei, D.2
Helen Cross, J.3
Guerrini, R.4
-
20
-
-
61449230751
-
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
-
C. Depienne, D. Bouteiller, and B. Keren Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females PLoS Genet 5 2009 e1000381
-
(2009)
PLoS Genet
, vol.5
, pp. 1000381
-
-
Depienne, C.1
Bouteiller, D.2
Keren, B.3
-
21
-
-
0015149375
-
A new familial form of convulsive disorder and mental retardation limited to females
-
R.C. Juberg, and C.D. Hellman A new familial form of convulsive disorder and mental retardation limited to females J Pediatr 79 1971 726 732
-
(1971)
J Pediatr
, vol.79
, pp. 726-732
-
-
Juberg, R.C.1
Hellman, C.D.2
-
22
-
-
41849135737
-
Epilepsy and mental retardation limited to females: An under-recognized disorder
-
I.E. Scheffer, S.J. Turner, and L.M. Dibbens Epilepsy and mental retardation limited to females: an under-recognized disorder Brain 131 2008 918 927
-
(2008)
Brain
, vol.131
, pp. 918-927
-
-
Scheffer, I.E.1
Turner, S.J.2
Dibbens, L.M.3
-
23
-
-
0036155260
-
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
-
L.A. Harkin, D.N. Bowser, L.M. Dibbens, and R.H. Wallace Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus Am J Hum Genet 70 2002 530 536
-
(2002)
Am J Hum Genet
, vol.70
, pp. 530-536
-
-
Harkin, L.A.1
Bowser, D.N.2
Dibbens, L.M.3
Wallace, R.H.4
-
24
-
-
69449089315
-
A functional null mutation of SCN1B in a patient with Dravet syndrome
-
G.A. Patino, L.R. Claes, and L.F. Lopez-Santiago A functional null mutation of SCN1B in a patient with Dravet syndrome J Neurosci 29 2009 10764 10778
-
(2009)
J Neurosci
, vol.29
, pp. 10764-10778
-
-
Patino, G.A.1
Claes, L.R.2
Lopez-Santiago, L.F.3
-
25
-
-
77954626810
-
A long-term follow-up study of Dravet syndrome up to adulthood
-
M. Akiyama, K. Kobayashi, H. Yoshinaga, and Y. Ohtsuka A long-term follow-up study of Dravet syndrome up to adulthood Epilepsia 51 2010 1043 1052
-
(2010)
Epilepsia
, vol.51
, pp. 1043-1052
-
-
Akiyama, M.1
Kobayashi, K.2
Yoshinaga, H.3
Ohtsuka, Y.4
-
26
-
-
33845956438
-
Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
-
F.E. Jansen, L.G. Sadleir, and L.A. Harkin Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults Neurology 67 2006 2224 2226
-
(2006)
Neurology
, vol.67
, pp. 2224-2226
-
-
Jansen, F.E.1
Sadleir, L.G.2
Harkin, L.A.3
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