-
1
-
-
0005213721
-
The incidence and prevalence of febrile seizures
-
In. Baram, T.Z. Shinnar, S. eds. San Diego. Academic Press
-
Stafstrom CE. The incidence and prevalence of febrile seizures. In : Baram TZ, Shinnar S eds. Febrile Seizures. San Diego : Academic Press, 2002 : 1 25.
-
(2002)
Febrile Seizures.
, pp. 1-25
-
-
Stafstrom, C.E.1
-
2
-
-
0029881889
-
Suggestion of a major gene for familial febrile convulsions mapping to 8q 13-21
-
Wallace RH, Berkovic SF, Howell RA, Sutherland GR, Mulley JC. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. Journal of Medical Genetics 1996 33 : 308 312. (Pubitemid 126664188)
-
(1996)
Journal of Medical Genetics
, vol.33
, Issue.4
, pp. 308-312
-
-
Wallace, R.H.1
Berkovic, S.F.2
Howell, R.A.3
Sutherland, G.R.4
Mulley, J.C.5
-
3
-
-
6844240853
-
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
-
DOI 10.1093/hmg/7.1.63
-
Johnson EW, Dubovsky J, Rich SS, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Human Molecular Genetics 1998 7 : 63 67. (Pubitemid 28040738)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.1
, 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
Gil-Nagel, A.7
Ahmann, P.8
Dokken, C.G.9
Schneider, D.T.10
Weber, J.L.11
-
4
-
-
0032834017
-
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
-
DOI 10.1002/1531-8249(199910)46:4<671::AID-ANA20>3.0.CO;2-5
-
Peiffer A, Thompson J, Charlier C, et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Annals of Neurology 1999 46 : 671 678. (Pubitemid 29466451)
-
(1999)
Annals of Neurology
, vol.46
, Issue.4
, pp. 671-678
-
-
Peiffer, A.1
Thompson, J.2
Charlier, C.3
Otterud, B.4
Varvil, T.5
Pappas, C.6
Barnitz, C.7
Gruenthal, K.8
Kuhn, R.9
Leppert, M.10
-
5
-
-
17344375789
-
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
-
Nakayama J, Hamano K, Iwasaki N, et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Human Molecular Genetics 2000 9 : 87 91. (Pubitemid 30145292)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.1
, pp. 87-91
-
-
Nakayama, J.1
Hamano, K.2
Iwasaki, N.3
Nakahara, S.4
Horigome, Y.5
Saitoh, H.6
Aoki, T.7
Maki, T.8
Kikuchi, M.9
Migita, T.10
Ohto, T.11
Yokouchi, Y.12
Tanaka, R.13
Hasegawa, M.14
Matsui, A.15
Hamaguchi, H.16
Arinami, T.17
-
6
-
-
0036894233
-
A locus for simple pure febrile seizures maps to chromosome 6q22-q24
-
Nabbout R, Prud'homme JF, Herman A, et al. A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain 2002 125 : 2668 2680. (Pubitemid 35423516)
-
(2002)
Brain
, vol.125
, Issue.12
, pp. 2668-2680
-
-
Nabbout, R.1
Prud'Homme, J.-F.2
Herman, A.3
Feingold, J.4
Brice, A.5
Dulac, O.6
Leguern, E.7
-
7
-
-
8844220357
-
Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18
-
Nakayama J, Yamamoto N, Hamano K, et al. Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. Neurology 2004 63 : 1803 1807. (Pubitemid 39532372)
-
(2004)
Neurology
, vol.63
, Issue.10
, pp. 1803-1807
-
-
Nakayama, J.1
Yamamoto, N.2
Hamano, K.3
Iwasaki, N.4
Ohta, M.5
Nakahara, S.6
Matsui, A.7
Noguchi, E.8
Arinami, T.9
-
8
-
-
33749684849
-
Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22
-
DOI 10.1111/j.1528-1167.2006.00637.x
-
Hedera P, Ma S, Blair MA, et al. Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22. Epilepsia 2006 47 : 1622 1628. (Pubitemid 44556395)
-
(2006)
Epilepsia
, vol.47
, Issue.10
, pp. 1622-1628
-
-
Hedera, P.1
Ma, S.2
Blair, M.A.3
Taylor, K.A.4
Hamati, A.5
Bradford, Y.6
Abou-Khalil, B.7
Haines, J.L.8
-
9
-
-
33747707462
-
A novel GABRG2 mutation associated with febrile seizures
-
DOI 10.1212/01.wnl.0000230145.73496.a2, PII 0000611420060822000033
-
Audenaert D, Schwartz E, Claeys KG, et al. A novel GABRG2 mutation associated with febrile seizures. Neurology 2006 67 : 687 690. (Pubitemid 44273621)
-
(2006)
Neurology
, vol.67
, Issue.4
, pp. 687-690
-
-
Audenaert, D.1
Schwartz, E.2
Claeys, K.G.3
Claes, L.4
Deprez, L.5
Suls, A.6
Van Dyck, T.7
Lagae, L.8
Van Broeckhoven, C.9
MacDonald, R.L.10
De Jonghe, P.11
-
10
-
-
34247539428
-
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p
-
DOI 10.1212/01.wnl.0000260062.02829.e3, PII 0000611420070424000010
-
Nabbout R, Baulac S, Desguerre I, et al. New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p. Neurology 2007 68 : 1374 1381. (Pubitemid 46659089)
-
(2007)
Neurology
, vol.68
, Issue.17
, pp. 1374-1381
-
-
Nabbout, R.1
Baulac, S.2
Desguerre, I.3
Bahi-Buisson, N.4
Chiron, C.5
Ruberg, M.6
Dulac, O.7
Leguern, E.8
-
11
-
-
0030943313
-
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
-
DOI 10.1093/brain/120.3.479
-
Scheffer R, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997 120 : 479 490. (Pubitemid 27153640)
-
(1997)
Brain
, vol.120
, Issue.3
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
12
-
-
0037076493
-
Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B
-
Wallace RH, Scheffer IE, Parasivam G, et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002 58 : 1426 1429. (Pubitemid 34507179)
-
(2002)
Neurology
, vol.58
, Issue.9
, pp. 1426-1429
-
-
Wallace, R.H.1
Scheffer, I.E.2
Parasivam, G.3
Barnett, S.4
Wallace, G.B.5
Sutherland, G.R.6
Berkovic, S.F.7
Mulley, J.C.8
-
13
-
-
0037678473
-
The genetics of febrile seizures and related epilepsy syndromes
-
DOI 10.1016/S0387-7604(03)00026-3
-
Hirose S, Mohney RP, Okada M, Kaneko S, Mitsudome A. The genetics of febrile seizures and related epilepsy syndromes. Brain and Development 2003 25 : 304 312. (Pubitemid 36808979)
-
(2003)
Brain and Development
, vol.25
, Issue.5
, pp. 304-312
-
-
Hirose, S.1
Mohney, R.P.2
Okada, M.3
Kaneko, S.4
Mitsudome, A.5
-
14
-
-
33750576539
-
Phenotypes and genotypes in epilepsy with febrile seizures plus
-
Ito M, Yamakawa K, Sugawara T, et al. Phenotypes and genotypes in epilepsy with febrile seizures plus. Epilepsy Research 2006 70S : S199 S205.
-
(2006)
Epilepsy Research
, vol.70
-
-
Ito, M.1
Yamakawa, K.2
Sugawara, T.3
-
15
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
DOI 10.1038/74159
-
Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics 2000 24 : 343 345. (Pubitemid 30187430)
-
(2000)
Nature Genetics
, vol.24
, Issue.4
, pp. 343-345
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
Baulac, S.4
Huberfeld, G.5
An-Gourfinkel, I.6
Brice, A.7
Leguern, E.8
Moulard, B.9
Chaigne, D.10
Buresi, C.11
Malafosse, A.12
-
16
-
-
14344277590
-
v1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
-
DOI 10.1073/pnas.111065098
-
Sugawara T, Tsurubuchi Y, Agarwala KL, et al. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proceedings of the National Academy of Sciences of the United States of America 2001 98 : 6384 6389. (Pubitemid 32488246)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.11
, pp. 6384-6389
-
-
Sugawara, T.1
Tsurubuchi, Y.2
Agarwala, K.L.3
Ito, M.4
Fukuma, G.5
Mazaki-Miyazaki, E.6
Nagafuji, H.7
Noda, M.8
Imoto, K.9
Wada, K.10
Mitsudome, A.11
Kaneko, S.12
Montal, M.13
Nagata, K.14
Hirose, S.15
Yamakawa, K.16
-
17
-
-
17344367657
-
+-channel 1 subunit gene SCN1B
-
DOI 10.1038/1252
-
Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+ channel beta1 subunit gene SCN1B. Nature Genetics 1998 19 : 366 370. (Pubitemid 28357909)
-
(1998)
Nature Genetics
, vol.19
, Issue.4
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
Scheffer, I.E.4
George Jr., A.L.5
Phillips, H.A.6
Saar, K.7
Reis, A.8
W.johnson, E.9
Sutherland, G.R.10
Berkovic, S.F.11
Mulley, J.C.12
-
18
-
-
0035030766
-
A receptor dysfunction in epilepsy: A mutation in the 2-subunit gene
-
DOI 10.1038/88254
-
Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the gamma2- subunit gene. Nature Genetics 2001 28 : 46 48. (Pubitemid 32405815)
-
(2001)
Nature Genetics
, vol.28
, Issue.1
, pp. 46-48
-
-
Baulac, S.1
Huberfeld, G.2
Gourfinkel-An, I.3
Mitropoulou, G.4
Beranger, A.5
Prud'Homme, J.-F.6
Baulac, M.7
Brice, A.8
Bruzzone, R.9
Leguern, E.10
-
19
-
-
0036155260
-
a-receptor 2 subunit in a family with generalized epilepsy with febrile seizures plus
-
DOI 10.1086/338710
-
Harkin LA, Bowser DN, Dibbens LM, et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. American Journal of Human Genetics 2002 70 : 530 536. (Pubitemid 34112305)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.2
, pp. 530-536
-
-
Harkin, L.A.1
Bowser, D.N.2
Dibbens, L.M.3
Singh, R.4
Phillips, F.5
Wallace, R.H.6
Richards, M.C.7
Williams, D.A.8
Mulley, J.C.9
Berkovic, S.F.10
Scheffer, I.E.11
Petrou, S.12
-
20
-
-
3242705038
-
A receptors is susceptibility locus for generalized epilepsies
-
DOI 10.1093/hmg/ddh146
-
Dibbens LM, Feng H-J, Richards MC, et al. GABRD encoding a protein for extra- or peri-synaptic GABA-A receptors is a susceptibility locus for generalized epilepsies. Human Molecular Genetics 2004 13 : 1315 1319. (Pubitemid 38961639)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.13
, pp. 1315-1319
-
-
Dibbens, L.M.1
Feng, H.-J.2
Richards, M.C.3
Harkin, L.A.4
Hodgson, B.L.5
Scott, D.6
Jenkins, M.7
Petrou, S.8
Sutherland, G.R.9
Scheffer, I.E.10
Berkovic, S.F.11
MacDonald, R.L.12
Mulley, J.C.13
-
21
-
-
27744572977
-
A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus
-
DOI 10.1136/jmg.2005.031393
-
Audenaert D, Claes L, Claeys KG, et al. A novel susceptibility locus at 2p24 for generalized epilepsy with febrile seizures plus. Journal of Medical Genetics 2005 42 : 947 952. (Pubitemid 41811317)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.12
, pp. 947-952
-
-
Audenaert, D.1
Claes, L.2
Claeys, K.G.3
Deprez, L.4
Van Dyck, T.5
Goossens, D.6
Del-Favero, J.7
Paesschen8
Van Broeckhoven, C.9
De Jonghe, P.10
-
22
-
-
0024317220
-
Proposal for revised classification of epilepsies and epileptic syndromes
-
Commission on Classification and Terminology of the International League against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989 30 : 389 399. (Pubitemid 19194714)
-
(1989)
Epilepsia
, vol.30
, Issue.4
, pp. 389-399
-
-
Roger, J.1
Dreifuss, F.E.2
Martinez-Lage, M.3
Munari, C.4
Porter, R.J.5
Seino, M.6
Wolf, P.7
Bancaud, J.8
Chauvel, P.9
Delgado-Escueta, A.V.10
Engel Jr., J.11
Mattson, R.H.12
Pedley, T.A.13
Penry, J.K.14
Quesney, L.F.15
Wieser, H.-G.16
-
23
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE task force on classification and terminology
-
DOI 10.1046/j.1528-1157.2001.10401.x
-
Engel JR. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001 42 : 796 803. (Pubitemid 32605946)
-
(2001)
Epilepsia
, vol.42
, Issue.6
, pp. 796-803
-
-
Engel Jr., J.1
-
24
-
-
0025274642
-
Polymerase chain reaction and analysis of cancer cell markers
-
Kawasaki E, Erlich H. Polymerase chain reaction and analysis of cancer cell markers. Journal of the National Cancer Institute 1990 82 : 806 807. (Pubitemid 20149438)
-
(1990)
Journal of the National Cancer Institute
, vol.82
, Issue.10
, pp. 806-807
-
-
Kawasaki, E.1
Erlich, H.2
-
25
-
-
0021850103
-
Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
-
Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. American Journal of Human Genetics 1985 37 : 482 498. (Pubitemid 15046057)
-
(1985)
American Journal of Human Genetics
, vol.37
, Issue.3
, pp. 482-498
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
27
-
-
0033814928
-
Implementing a unified approach to family based tests of association
-
Laird N, Horvath S, Xu X. Implementing a unified approach to family based tests of association. Genetic Epidemiology 2000 19 : S36 S42.
-
(2000)
Genetic Epidemiology
, vol.19
-
-
Laird, N.1
Horvath, S.2
Xu, X.3
-
28
-
-
0036318060
-
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions
-
DOI 10.1001/archneur.59.7.1137
-
Kananura C, Haug K, Sander T, et al. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Archives of Neurology 2002 59 : 1137 1141. (Pubitemid 34755827)
-
(2002)
Archives of Neurology
, vol.59
, Issue.7
, pp. 1137-1141
-
-
Kananura, C.1
Haug, K.2
Sander, T.3
Runge, U.4
Gu, W.5
Hallmann, K.6
Rebstock, J.7
Heils, A.8
Steinlein, O.K.9
-
29
-
-
0032964297
-
BLAST 2 SEQUENCES, a new tool for comparing protein and nucleotide sequences
-
DOI 10.1016/S0378-1097(99)00149-4, PII S0378109799001494
-
Tatusova TA, Madden TL. Blast 2 sequences - a new tool for comparing protein and nucleotide sequences. FEMS Microbiology Letters 1999 174 : 247 250. (Pubitemid 29217013)
-
(1999)
FEMS Microbiology Letters
, vol.174
, Issue.2
, pp. 247-250
-
-
Tatusova, T.A.1
Madden, T.L.2
-
30
-
-
10744220869
-
+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations
-
DOI 10.1111/j.0013-9580.2004.04303.x
-
Bonanni P, Malcarne M, Moro F, et al. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia 2004 45 : 149 158. (Pubitemid 38174121)
-
(2004)
Epilepsia
, vol.45
, Issue.2
, pp. 149-158
-
-
Bonanni, P.1
Malcarne, M.2
Moro, F.3
Veggiotti, P.4
Buti, D.5
Ferrari, A.R.6
Parrini, E.7
Mei, D.8
Volzone, A.9
Zara, F.10
Heron, S.E.11
Bordo, L.12
Marini, C.13
Guerrini, R.14
-
31
-
-
38049026808
-
GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families
-
Mrabet H, Belhedi N, Bouchlaka S, El Gaaied A, Mrabet A. GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families. Journal of the Neurological Sciences 2007 28 : 311 314.
-
(2007)
Journal of the Neurological Sciences
, vol.28
, pp. 311-314
-
-
Mrabet, H.1
Belhedi, N.2
Bouchlaka, S.3
El Gaaied, A.4
Mrabet, A.5
-
32
-
-
34447124334
-
Association analysis of 2 subunit of -aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II -polypeptide gene mutation in Southern Chinese children with febrile seizures
-
DOI 10.1177/0883073807304002
-
Wang X, Meichun Xu, Lizhong Du. Association analysis of gamma2 subunit of gamma-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II alpha-polypeptide gene mutation in southern Chinese children with febrile seizures. Journal of Child Neurology 2007 22 : 714 719. (Pubitemid 47034376)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.6
, pp. 714-719
-
-
Xiumin, W.1
Meichun, X.2
Lizhong, D.3
-
33
-
-
0037046207
-
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara T, Mazaki-Miyazaki E, Fukushima K, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002 58 : 1122 1124. (Pubitemid 34298561)
-
(2002)
Neurology
, vol.58
, Issue.7
, pp. 1122-1124
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Fukushima, K.3
Shimomura, J.4
Fujiwara, T.5
Hamano, S.6
Inoue, Y.7
Yamakawa, K.8
-
34
-
-
0035071143
-
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - And prevalence of variants in patients with epilepsy
-
DOI 10.1086/319524
-
Escayg A, Heils A, MacDonald BT, et al. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy. American Journal of Human Genetics 2001 68 : 866 873. (Pubitemid 32289732)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.4
, pp. 866-873
-
-
Escayg, A.1
Heils, A.2
MacDonald, B.T.3
Haug, K.4
Sander, T.5
Meisler, M.H.6
|