-
1
-
-
0035956488
-
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
-
Abou-Khalil B., Ge Q., Desai R., Ryther R., Bazyk A., Bailey R., Haines J.L., Sutcliffe J.S., and George Jr. A.L. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 57 (2001) 2265-2272
-
(2001)
Neurology
, vol.57
, pp. 2265-2272
-
-
Abou-Khalil, B.1
Ge, Q.2
Desai, R.3
Ryther, R.4
Bazyk, A.5
Bailey, R.6
Haines, J.L.7
Sutcliffe, J.S.8
George Jr., A.L.9
-
2
-
-
33646339415
-
Genes and loci involved in febrile seizures and related epilepsy syndromes
-
Audenaert D., Van Broeckhoven C., and De Jonghe P. Genes and loci involved in febrile seizures and related epilepsy syndromes. Hum. Mutat. 27 (2006) 391-401
-
(2006)
Hum. Mutat.
, vol.27
, pp. 391-401
-
-
Audenaert, D.1
Van Broeckhoven, C.2
De Jonghe, P.3
-
3
-
-
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 J.F., Baulac M., Brice A., and LeGuern E. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am. J. Hum. Genet. 65 (1999) 1078-1085
-
(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
Brice, A.7
LeGuern, E.8
-
4
-
-
0035030766
-
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene
-
Baulac S., Huberfeld G., Gourfinkel-An I., Mitropoulou G., Beranger A., Prud'homme J.F., Baulac M., Brice A., Bruzzone R., and LeGuern E. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat. Genet. 28 (2001) 46-48
-
(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
Baulac, M.7
Brice, A.8
Bruzzone, R.9
LeGuern, E.10
-
5
-
-
10644268434
-
Benign focal seizures of adolescence: a prospective study
-
Caraballo R.H., Cersosimo R.O., and Fejerman N. Benign focal seizures of adolescence: a prospective study. Epilepsia 45 (2004) 1600-1603
-
(2004)
Epilepsia
, vol.45
, pp. 1600-1603
-
-
Caraballo, R.H.1
Cersosimo, R.O.2
Fejerman, N.3
-
6
-
-
28544440084
-
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene
-
Combi R., Dalpra L., Ferini-Strambi L., and Tenchini M.L. Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. Ann. Neurol. 58 (2005) 899-904
-
(2005)
Ann. Neurol.
, vol.58
, pp. 899-904
-
-
Combi, R.1
Dalpra, L.2
Ferini-Strambi, L.3
Tenchini, M.L.4
-
7
-
-
34247882001
-
Gene symbol: SCN1A
-
Combi R., Grioni D., Tenchini M.L., Bertolini M., Tredici G., and Dalpra L. Gene symbol: SCN1A. Hum. Genet. 120 (2007) 916
-
(2007)
Hum. Genet.
, vol.120
, pp. 916
-
-
Combi, R.1
Grioni, D.2
Tenchini, M.L.3
Bertolini, M.4
Tredici, G.5
Dalpra, L.6
-
8
-
-
0019509687
-
Proposal for revised clinical and electroencephalographic classification of epileptic seizures
-
Commission of Classification and terminology of the International League Against Epilepsy. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 22 (1981) 489-501
-
(1981)
Epilepsia
, vol.22
, pp. 489-501
-
-
-
9
-
-
0024317220
-
Proposal for revised classification of epilepsies and epileptic syndromes
-
Commission of Classification and terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30 (1989) 389-399
-
(1989)
Epilepsia
, vol.30
, pp. 389-399
-
-
-
10
-
-
0031713334
-
Classifications of the International League of Epilepsy: time for reappraisal
-
Engel J. Classifications of the International League of Epilepsy: time for reappraisal. Epilepsia 39 (1998) 1014-1017
-
(1998)
Epilepsia
, vol.39
, pp. 1014-1017
-
-
Engel, J.1
-
11
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology
-
Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 42 (2001) 796-803
-
(2001)
Epilepsia
, vol.42
, pp. 796-803
-
-
Engel, J.1
-
12
-
-
33750585514
-
ILAE classification of epilepsy syndromes
-
Engel J. ILAE classification of epilepsy syndromes. Epilepsy Res. 70S (2006) S5-S10
-
(2006)
Epilepsy Res.
, vol.70 S
-
-
Engel, J.1
-
13
-
-
33748676917
-
Report of the ILAE Classification Core Group
-
(ILAE task force on classification and terminology, Syndromes and epilepsies (2008))
-
Engel J. Report of the ILAE Classification Core Group. Epilepsia 47 9 (2006) 1558-1568; (ILAE task force on classification and terminology, Syndromes and epilepsies (2008))
-
(2006)
Epilepsia
, vol.47
, Issue.9
-
-
Engel, J.1
-
14
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., Buresi C., and Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24 (2000) 343-345
-
(2000)
Nat. Genet.
, vol.24
, 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
-
15
-
-
0035071143
-
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy
-
Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., and Meisler M.H. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet. 68 (2001) 866-873
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 866-873
-
-
Escayg, A.1
Heils, A.2
MacDonald, B.T.3
Haug, K.4
Sander, T.5
Meisler, M.H.6
-
16
-
-
32944459586
-
Genetics of idiopathic generalized epilepsies
-
Gardiner M. Genetics of idiopathic generalized epilepsies. Epilepsia 46 Suppl. 9 (2005) 15-20
-
(2005)
Epilepsia
, vol.46
, Issue.SUPPL. 9
, pp. 15-20
-
-
Gardiner, M.1
-
17
-
-
32144432641
-
Epilepsy in children
-
Guerrini R. Epilepsy in children. Lancet 367 (2006) 499-524
-
(2006)
Lancet
, vol.367
, pp. 499-524
-
-
Guerrini, R.1
-
18
-
-
0036155260
-
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
-
Harkin L.A., Bowser D.N., Dibbens L.M., Singh R., Phillips F., Wallace R.H., Richards M.C., Williams D.A., Mulley J.C., Berkovic S.F., Scheffer I.E., and Petrou S. 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
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
-
19
-
-
33947123754
-
The spectrum of SCN1A-related infantile epileptic encephalopathies
-
Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.G., Seltzer W.K., Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., and Scheffer I.E. 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
Dibbens, L.4
Pelekanos, J.T.5
Zuberi, S.M.6
Sadleir, L.G.7
Andermann, E.8
Gill, D.9
Farrell, K.10
Connolly, M.11
Stanley, T.12
Harbord, M.13
Andermann, F.14
Wang, J.15
Batish, S.D.16
Jones, J.G.17
Seltzer, W.K.18
Gardner, A.19
Sutherland, G.20
Berkovic, S.F.21
Mulley, J.C.22
Scheffer, I.E.23
more..
-
20
-
-
38949127199
-
Navigating the channels and beyond: unravelling the genetics of the epilepsies
-
Helbig I., Scheffer I.E., Mulley J.C., and Berkovic S.F. Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol. 7 (2008) 231-245
-
(2008)
Lancet Neurol.
, vol.7
, pp. 231-245
-
-
Helbig, I.1
Scheffer, I.E.2
Mulley, J.C.3
Berkovic, S.F.4
-
21
-
-
0036318060
-
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions
-
Kananura C., Haug K., Sander T., Runge U., Gu W., Hallmann K., Rebstock J., Heils A., and Steinlein O.K. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch. Neurol. 59 (2002) 1137-1141
-
(2002)
Arch. Neurol.
, vol.59
, 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
-
22
-
-
2342484456
-
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families
-
Marini C., Scheffer I.E., Crossland K.M., Grinton B.E., Phillips F.L., McMahon J.M., Turner S.J., Dean J.T., Kivity S., Mazarib A., Neufeld M.Y., Korczyn A.D., Harkin L.A., Dibbens L.M., Wallace R.H., Mulley J.C., and Berkovic S.F. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia 45 (2004) 467-478
-
(2004)
Epilepsia
, vol.45
, pp. 467-478
-
-
Marini, C.1
Scheffer, I.E.2
Crossland, K.M.3
Grinton, B.E.4
Phillips, F.L.5
McMahon, J.M.6
Turner, S.J.7
Dean, J.T.8
Kivity, S.9
Mazarib, A.10
Neufeld, M.Y.11
Korczyn, A.D.12
Harkin, L.A.13
Dibbens, L.M.14
Wallace, R.H.15
Mulley, J.C.16
Berkovic, S.F.17
-
23
-
-
35848965669
-
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy
-
Martin M.S., Tang B., Papale L.A., Yu F.H., Catterall W.A., and Escayg A. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Hum. Mol. Genet. 16 (2007) 2892-2899
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 2892-2899
-
-
Martin, M.S.1
Tang, B.2
Papale, L.A.3
Yu, F.H.4
Catterall, W.A.5
Escayg, A.6
-
24
-
-
0033898803
-
The genetics of rolandic epilepsy
-
Neubauer B.A. The genetics of rolandic epilepsy. Epilepsia 41 (2000) 1061-1062
-
(2000)
Epilepsia
, vol.41
, pp. 1061-1062
-
-
Neubauer, B.A.1
-
25
-
-
0242691208
-
A comparison of bayesian methods for haplotype reconstruction from population genotype data
-
Stephens M., and Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am. J. Hum. Genet. 73 (2003) 1162-1169
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donnelly, P.2
-
26
-
-
14344277590
-
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
-
Sugawara T., Tsurubuchi Y., Agarwala K.L., Ito M., Fukuma G., Mazaki-Miyazaki E., Nagafuji H., Noda M., Imoto K., Wada K., Mitsudome A., Kaneko S., Montal M., Nagata K., Hirose S., and Yamakawa K. 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. Proc. Natl. Acad. Sci. U. S. A. 98 (2001) 6384-6389
-
(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, 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
-
27
-
-
0037046207
-
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara T., Mazaki-Miyazaki E., Fukushima K., Shimomura J., Fujiwara T., Hamano S., Inoue Y., and Yamakawa K. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58 (2002) 1122-1124
-
(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
Inoue, Y.7
Yamakawa, K.8
-
28
-
-
33748339365
-
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients
-
Suls A., Claeys K.G., Goossens D., Harding B., Van Luijk R., Scheers S., Deprez L., Audenaert D., Van Dyck T., Beeckmans S., Smouts I., Ceulemans B., Lagae L., Buyse G., Barisic N., Misson J.P., Wauters J., Del-Favero J., De Jonghe P., and Claes L.R. 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
Harding, B.4
Van Luijk, R.5
Scheers, S.6
Deprez, L.7
Audenaert, D.8
Van Dyck, T.9
Beeckmans, S.10
Smouts, I.11
Ceulemans, B.12
Lagae, L.13
Buyse, G.14
Barisic, N.15
Misson, J.P.16
Wauters, J.17
Del-Favero, J.18
De Jonghe, P.19
Claes, L.R.20
more..
-
29
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S., Ramensky V., Koch I., Lathe W., 3rd A.S., Kondrashov P., and Bork. Prediction of deleterious human alleles. Hum. Mol. Genet. 10 (2001) 591-597
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe, W.4
3rd, A.S.5
Kondrashov, P.6
Bork7
-
30
-
-
0035033520
-
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
-
Wallace R.H., Marini C., Petrou S., Harkin L.A., Bowser D.N., Panchal R.G., Williams D.A., Sutherland G.R., Mulley J.C., Scheffer I.E., and Berkovic S.F. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28 (2001) 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
Williams, D.A.7
Sutherland, G.R.8
Mulley, J.C.9
Scheffer, I.E.10
Berkovic, S.F.11
-
31
-
-
0035074294
-
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus
-
Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N., Ben-Zeev B., Goikhman I., Singh R., Kremmidiotis G., Gardner A., Sutherland G.R., George Jr. A.L., Mulley J.C., and Berkovic S.F. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 68 (2001) 859-865
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 859-865
-
-
Wallace, R.H.1
Scheffer, I.E.2
Barnett, S.3
Richards, M.4
Dibbens, L.5
Desai, R.R.6
Lerman-Sagie, T.7
Lev, D.8
Mazarib, A.9
Brand, N.10
Ben-Zeev, B.11
Goikhman, I.12
Singh, R.13
Kremmidiotis, G.14
Gardner, A.15
Sutherland, G.R.16
George Jr., A.L.17
Mulley, J.C.18
Berkovic, S.F.19
-
32
-
-
0037076493
-
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B
-
Wallace R.H., Scheffer I.E., Parasivam G., Barnett S., Wallace G.B., Sutherland G.R., Berkovic S.F., and Mulley J.C. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 58 (2002) 1426-1429
-
(2002)
Neurology
, vol.58
, 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
-
33
-
-
50149107957
-
Genetic mechanisms in Idiopathic epilepsies
-
Weber Y.G., and Lerche H. Genetic mechanisms in Idiopathic epilepsies. Dev. Med. Child Neurol. 50 (2008) 648-654
-
(2008)
Dev. Med. Child Neurol.
, vol.50
, pp. 648-654
-
-
Weber, Y.G.1
Lerche, H.2
-
34
-
-
0037222315
-
Sodium channels SCN1A SCN2A and SCN3A in familial autism
-
Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M., Reichert J., Buxbaum J.D., and Meisler M.H. Sodium channels SCN1A SCN2A and SCN3A in familial autism. Mol. Psychiatry 8 (2003) 186-194
-
(2003)
Mol. Psychiatry
, vol.8
, pp. 186-194
-
-
Weiss, L.A.1
Escayg, A.2
Kearney, J.A.3
Trudeau, M.4
MacDonald, B.T.5
Mori, M.6
Reichert, J.7
Buxbaum, J.D.8
Meisler, M.H.9
-
35
-
-
13244271276
-
Epilepsy and sodium channel gene mutations: gain or loss of function?
-
Yamakawa K. Epilepsy and sodium channel gene mutations: gain or loss of function?. Neuroreport 16 (2005) 1-3
-
(2005)
Neuroreport
, vol.16
, pp. 1-3
-
-
Yamakawa, K.1
|