-
1
-
-
0025297597
-
Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy
-
Renier WO, Renkawek K. Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy. Epilepsia 1990; 31: 287-91.
-
(1990)
Epilepsia
, vol.31
, pp. 287-291
-
-
Renier, W.O.1
Renkawek, K.2
-
2
-
-
0001448323
-
Clinical and electroencephalographic study of severe myoclonic epilepsy in infancy (Dravet)
-
Sugama M, Oguni H, Fukuyama Y. Clinical and electroencephalographic study of severe myoclonic epilepsy in infancy (Dravet). Jpn J Psychiatry Neurol 1987; 41: 463-5.
-
(1987)
Jpn J Psychiatry Neurol
, vol.41
, pp. 463-465
-
-
Sugama, M.1
Oguni, H.2
Fukuyama, Y.3
-
3
-
-
0023631817
-
Severe myoclonic epilepsy of infancy
-
Hurst DL. Severe myoclonic epilepsy of infancy. Pediatr Neurol 1987; 3: 269-72.
-
(1987)
Pediatr Neurol
, vol.3
, pp. 269-272
-
-
Hurst, D.L.1
-
4
-
-
0023407945
-
A clinical and EEG study predominantly unilateral seizures in children: Comparison with severe myoclonic epilepsy in infancy
-
Miyake S, Yamashita S, Yamada M. A clinical and EEG study predominantly unilateral seizures in children: comparison with severe myoclonic epilepsy in infancy. Child Epilepsy 1987; 41: 470-4.
-
(1987)
Child Epilepsy
, vol.41
, pp. 470-474
-
-
Miyake, S.1
Yamashita, S.2
Yamada, M.3
-
5
-
-
0024723423
-
A peculiar state observed in 4 patients with severe myoclonic epilepsy of infancy
-
Yasuda S, Watanabe M, Fujiwara T, Yagi K, Seino M. A peculiar state observed in 4 patients with severe myoclonic epilepsy of infancy. Jpn J Psychiatry Neurol 1989; 43: 533-5.
-
(1989)
Jpn J Psychiatry Neurol
, vol.43
, pp. 533-535
-
-
Yasuda, S.1
Watanabe, M.2
Fujiwara, T.3
Yagi, K.4
Seino, M.5
-
6
-
-
0025359576
-
Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy
-
Fujiwara T, Nakamura H, Watanabe M, Yagi K, Seino M, Nakamura H. Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy. Epilepsia 1990; 31: 281-6.
-
(1990)
Epilepsia
, vol.31
, pp. 281-286
-
-
Fujiwara, T.1
Nakamura, H.2
Watanabe, M.3
Yagi, K.4
Seino, M.5
Nakamura, H.6
-
7
-
-
0030943313
-
Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes
-
Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997; 120: 479-90.
-
(1997)
Brain
, vol.120
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
8
-
-
0029881889
-
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
-
Wallace RH, Berkovic SF, Howell RA, Sutherland GR, Mulley JC. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996; 33: 308-12.
-
(1996)
J Med Genet
, vol.33
, pp. 308-312
-
-
Wallace, R.H.1
Berkovic, S.F.2
Howell, R.A.3
Sutherland, G.R.4
Mulley, J.C.5
-
9
-
-
6844240853
-
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
-
Johnson EW, Dubovsky J, Rich SS, O'Donovan CA, Orr HT, Anderson VE, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998; 7: 63-7.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 63-67
-
-
Johnson, E.W.1
Dubovsky, J.2
Rich, S.S.3
O'Donovan, C.A.4
Orr, H.T.5
Anderson, V.E.6
-
10
-
-
0032511770
-
Febrile seizures: Phenotype and evidence for a chromosome 19p locus
-
Kugler SL, Stenroos ES, Mandebaum DE, Lehner T, McKoy VV, Prossick T, et al. Febrile seizures: phenotype and evidence for a chromosome 19p locus. Am J Med Genet 1998; 79: 359-61.
-
(1998)
Am J Med Genet
, vol.79
, pp. 359-361
-
-
Kugler, S.L.1
Stenroos, E.S.2
Mandebaum, D.E.3
Lehner, T.4
McKoy, V.V.5
Prossick, T.6
-
11
-
-
0032834017
-
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
-
Pfeiffer A, Thompson J, Charlier C, Otterud B, Varvil T, Pappas C, et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neurol 1999; 46: 671-8.
-
(1999)
Ann Neurol
, vol.46
, pp. 671-678
-
-
Pfeiffer, A.1
Thompson, J.2
Charlier, C.3
Otterud, B.4
Varvil, T.5
Pappas, C.6
-
12
-
-
17344375789
-
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
-
Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet 2000; 9: 87-91.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 87-91
-
-
Nakayama, J.1
Hamano, K.2
Iwasaki, N.3
Nakahara, S.4
Horigome, Y.5
Saitoh, H.6
-
13
-
-
0036894233
-
A locus for simple pure febrile seizures maps to chromosome 6q11-q24
-
Nabbout R, Prod'homme JF, Herman A, Feingold J, Brice A, Dulac O, et al. A locus for simple pure febrile seizures maps to chromosome 6q11-q24. Brain 2002; 125: 2668-80.
-
(2002)
Brain
, vol.125
, pp. 2668-2680
-
-
Nabbout, R.1
Prod'homme, J.F.2
Herman, A.3
Feingold, J.4
Brice, A.5
Dulac, O.6
-
14
-
-
0036093827
-
Lack of SCN1A mutations in familial febrile seizures
-
Malacame M, Madia F, Gennaro E, Vacca D, Güey AE, Buono S, et al. Lack of SCN1A mutations in familial febrile seizures. Epilepsia 2002; 43: 559-62.
-
(2002)
Epilepsia
, vol.43
, pp. 559-562
-
-
Malacame, M.1
Madia, F.2
Gennaro, E.3
Vacca, D.4
Güey, A.E.5
Buono, S.6
-
15
-
-
0037199677
-
Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans
-
Nakayama J, Yamamoto N, Hamano K, Iwasaki N, Ohta M, Nakahara S, et al. Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans. Neurosci Lett 2002; 329: 249-51.
-
(2002)
Neurosci Lett
, vol.329
, pp. 249-251
-
-
Nakayama, J.1
Yamamoto, N.2
Hamano, K.3
Iwasaki, N.4
Ohta, M.5
Nakahara, S.6
-
16
-
-
0032953159
-
Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
-
Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999; 45: 75-81.
-
(1999)
Ann Neurol
, vol.45
, pp. 75-81
-
-
Singh, R.1
Scheffer, I.E.2
Crossland, K.3
Berkovic, S.F.4
-
17
-
-
17344367657
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
-
Wallace RH, Wang DW, Singh R, Scheffer IE, George AL, Phillips HA, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B. Nat Genet 1998; 19: 366-70.
-
(1998)
Nat Genet
, vol.19
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
Scheffer, I.E.4
George, A.L.5
Phillips, H.A.6
-
18
-
-
0033364824
-
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
-
Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet 1999; 65: 1078-85.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1078-1085
-
-
Baulac, S.1
Gourfinkel-An, I.2
Picard, F.3
Rosenberg-Bourgin, M.4
Prud'homme, J.F.5
Baulac, M.6
-
19
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, Gourfinkel-An I, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000; 24: 243-5.
-
(2000)
Nat Genet
, vol.24
, pp. 243-245
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
Baulac, S.4
Huberfeld, G.5
Gourfinkel-An, I.6
-
20
-
-
0033361895
-
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q23
-
Moulard B, Guipponi M, Chaigne D, Mouthon D, Buresi C, Malafosse A. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q23. Am J Hum Genet 1999; 65: 1396-400.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1396-1400
-
-
Moulard, B.1
Guipponi, M.2
Chaigne, D.3
Mouthon, D.4
Buresi, C.5
Malafosse, A.6
-
21
-
-
0035030766
-
First genetic evidence of GABA-A receptor disfunction in epilepsy: A mutation in the g2-subunit gene
-
Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, et al. First genetic evidence of GABA-A receptor disfunction in epilepsy: a mutation in the g2-subunit gene. Nat Genet 2001; 28: 46-8.
-
(2001)
Nat Genet
, vol.28
, pp. 46-48
-
-
Baulac, S.1
Huberfeld, G.2
Gourfinkel-An, I.3
Mitropoulou, G.4
Beranger, A.5
Prud'homme, J.F.6
-
22
-
-
0035956488
-
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
-
Abou-Khalil B, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, 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
Desai, R.2
Ryther, R.3
Bazyk, A.4
Bailey, R.5
Haines, J.L.6
-
23
-
-
14344277590
-
A missense mutation of the Na+ channel subunit gene Na in a patients with febrile and afebrile seizures causes channel dysfunction
-
Sugamara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Miyazaki-Miyazaki E, et al. A missense mutation of the Na+ channel subunit gene Na in a patients with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A 2001; 98: 6384-9.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 6384-6389
-
-
Sugamara, T.1
Tsurubuchi, Y.2
Agarwala, K.L.3
Ito, M.4
Fukuma, G.5
Miyazaki-Miyazaki, E.6
-
24
-
-
0035964102
-
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
-
Sugawara T, Mizayaki-Mizayaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, et al. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 2001; 57: 703-5.
-
(2001)
Neurology
, vol.57
, pp. 703-705
-
-
Sugawara, T.1
Mizayaki-Mizayaki, E.2
Ito, M.3
Nagafuji, H.4
Fukuma, G.5
Mitsudome, A.6
-
25
-
-
0036158906
-
Autosomal dominant epilepsy with febrile seizures plus with missense putations of the (Na+)-channel al subunit gene, SCN1A
-
Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki F, et al. Autosomal dominant epilepsy with febrile seizures plus with missense putations of the (Na+)-channel al subunit gene, SCN1A. Epilepsy Res 2002; 48: 15-23.
-
(2002)
Epilepsy Res
, vol.48
, pp. 15-23
-
-
Ito, M.1
Nagafuji, H.2
Okazawa, H.3
Yamakawa, K.4
Sugawara, T.5
Mazaki-Miyazaki, F.6
-
26
-
-
0035033520
-
Mutant GABA-A receptor g2-subunit in childhood absence epilepsy and febrile seizures
-
Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, et al. Mutant GABA-A receptor g2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001; 28: 49-52.
-
(2001)
Nat Genet
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
Harkin, L.A.4
Bowser, D.N.5
Panchal, R.G.6
-
27
-
-
0037224654
-
Childhood absence epilepsy and febrile seizures: A family with a GABA-A receptor mutation
-
Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF. Childhood absence epilepsy and febrile seizures: a family with a GABA-A receptor mutation. Brain 2003; 126: 230-40.
-
(2003)
Brain
, vol.126
, pp. 230-240
-
-
Marini, C.1
Harkin, L.A.2
Wallace, R.H.3
Mulley, J.C.4
Scheffer, I.E.5
Berkovic, S.F.6
-
28
-
-
0014826210
-
Centrencephalic myoclonic-astatic petit mal
-
Doose H, Gerken H, Leonhardt R, Voelzke E, Voelz C. Centrencephalic myoclonic-astatic petit mal. Neuropediatrics 1970; 2: 59-78.
-
(1970)
Neuropediatrics
, vol.2
, pp. 59-78
-
-
Doose, H.1
Gerken, H.2
Leonhardt, R.3
Voelzke, E.4
Voelz, C.5
-
29
-
-
14344277590
-
A missense mutation of the Na+ channel alpha-II-subunit gene Na (v) 12 in a patient with febrile and afebrile seizures causes channel dysfunction
-
Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki F, et al. A missense mutation of the Na+ channel alpha-II-subunit gene Na (v) 12 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A 2001; 98: 6384-9.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 6384-6389
-
-
Sugawara, T.1
Tsurubuchi, Y.2
Agarwala, K.L.3
Ito, M.4
Fukuma, G.5
Mazaki-Miyazaki, F.6
-
30
-
-
0034850563
-
Severe myoclonic epilepsy of infancy: Extended spectrum of GEFS+?
-
Singh R, Andermann E, Witehouse WPA, Harvey AS, Keene DL, Seni MH, et al. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001; 42: 837-44.
-
(2001)
Epilepsia
, vol.42
, pp. 837-844
-
-
Singh, R.1
Andermann, E.2
Witehouse, W.P.A.3
Harvey, A.S.4
Keene, D.L.5
Seni, M.H.6
-
31
-
-
0035089519
-
Genetic predisposition to severe myoclonic epilepsy in infancy
-
Benlounis A, Nabbout R, Feinglod J, Parmeggiani A, Guerrini R, Kamiska A, et al. Genetic predisposition to severe myoclonic epilepsy in infancy. Epilepsia 2001; 42: 204-9.
-
(2001)
Epilepsia
, vol.42
, pp. 204-209
-
-
Benlounis, A.1
Nabbout, R.2
Feinglod, J.3
Parmeggiani, A.4
Guerrini, R.5
Kamiska, A.6
-
32
-
-
0034778243
-
Severe myoclonic epilepsy in infants - A review based on the Tokyo Women's Medical University series of 84 cases
-
Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M. Severe myoclonic epilepsy in infants-a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev 2001; 23: 736-48.
-
(2001)
Brain Dev
, vol.23
, pp. 736-748
-
-
Oguni, H.1
Hayashi, K.2
Awaya, Y.3
Fukuyama, Y.4
Osawa, M.5
-
33
-
-
0035039835
-
Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: A case report of two Italian families
-
Veggiotti P, Cardinali S, Montalenti E, Gatti A, Lanzi G. Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. Epileptic Disord 2001; 3: 29-32.
-
(2001)
Epileptic Disord
, vol.3
, pp. 29-32
-
-
Veggiotti, P.1
Cardinali, S.2
Montalenti, E.3
Gatti, A.4
Lanzi, G.5
-
34
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy in infancy
-
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy in infancy. Am J Hum Genet 2001; 68: 1327-32.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1327-1332
-
-
Claes, L.1
Del-Favero, J.2
Ceulemans, B.3
Lagae, L.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
35
-
-
0037046207
-
Frequent mutations SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, et al. Frequent mutations SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002; 58: 1122-4.
-
(2002)
Neurology
, vol.58
, pp. 1122-1124
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Fukushima, K.3
Shimomura, J.4
Fujiwara, T.5
Hamano, S.6
-
36
-
-
0344672944
-
Mutations of sodium channel a subunit type I (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
-
Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Tanahashi Y, Fukushima K, Watanabe M, et al. Mutations of sodium channel a subunit type I (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003; 126: 531-46.
-
(2003)
Brain
, vol.126
, pp. 531-546
-
-
Fujiwara, T.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
Tanahashi, Y.4
Fukushima, K.5
Watanabe, M.6
-
37
-
-
0036304363
-
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
-
Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. BBRC 2002; 295: 17-23.
-
(2002)
BBRC
, vol.295
, pp. 17-23
-
-
Ohmori, I.1
Ouchida, M.2
Ohtsuka, Y.3
Oka, E.4
Shimizu, K.5
-
38
-
-
0037360506
-
No evidence of GABRG2 mutations in severe myoclonic epilepsy in infancy
-
Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, et al. No evidence of GABRG2 mutations in severe myoclonic epilepsy in infancy. Epilepsy Res 2003; 53: 196-200.
-
(2003)
Epilepsy Res
, vol.53
, pp. 196-200
-
-
Madia, F.1
Gennaro, E.2
Cecconi, M.3
Buti, D.4
Capovilla, G.5
Dalla Bernardina, B.6
|