-
1
-
-
0032536030
-
A potassium channel mutation in neonatal human epilepsy
-
Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK. 1998. A potassium channel mutation in neonatal human epilepsy. Science 279:403-406.
-
(1998)
Science
, vol.279
, pp. 403-406
-
-
Biervert, C.1
Schroeder, B.C.2
Kubisch, C.3
Berkovic, S.F.4
Propping, P.5
Jentsch, T.J.6
Steinlein, O.K.7
-
2
-
-
0031974209
-
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
-
Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M. 1998. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet 18:53-55.
-
(1998)
Nature Genet
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
Lewis, T.B.4
Reus, B.E.5
Leach, R.J.6
Leppert, M.7
-
3
-
-
0024317220
-
Proposal for revised classification of epilepsies and epileptic syndromes
-
Commission on Classification and Terminology of the International League Against Epilepsy. 1989. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389-399.
-
(1989)
Epilepsia
, vol.30
, pp. 389-399
-
-
-
4
-
-
0032993522
-
Benign infantile familial convulsions: Natural history of a case and clinical characteristics of a large italian family
-
Giordano L, Accorsi P, Valseriati D, Tiberti A, Menegati E, Zara F, Vigevano F. 1999. Benign infantile familial convulsions: natural history of a case and clinical characteristics of a large Italian family. Neuropediatrics 30:99-101.
-
(1999)
Neuropediatrics
, vol.30
, pp. 99-101
-
-
Giordano, L.1
Accorsi, P.2
Valseriati, D.3
Tiberti, A.4
Menegati, E.5
Zara, F.6
Vigevano, F.7
-
5
-
-
8044248429
-
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q
-
Guipponi M, Rivier F, Vigevano F, Beck C, Crespel A, Echenne B, Lucchini P, Sebastianelli R, Baldy-Moulinier M, Malafosse A. 1997. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 6:473-477.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 473-477
-
-
Guipponi, M.1
Rivier, F.2
Vigevano, F.3
Beck, C.4
Crespel, A.5
Echenne, B.6
Lucchini, P.7
Sebastianelli, R.8
Baldy-Moulinier, M.9
Malafosse, A.10
-
6
-
-
0027320778
-
"Cold SSCP": A simple, rapid and non radioactive method for optimized single-strand conformation polymorphism analyses
-
Hongyo T, Buzard GS, Calvert RJ, Weghorst CM. 1993. "Cold SSCP": a simple, rapid and non radioactive method for optimized single-strand conformation polymorphism analyses. Nucleic Acids Res 21:3637-3642.
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 3637-3642
-
-
Hongyo, T.1
Buzard, G.S.2
Calvert, R.J.3
Weghorst, C.M.4
-
7
-
-
0028020577
-
Genomic organization of the human voltage-gated Na+ channel β1 subunit gene (SCNIB)
-
Makita N, Sloan-Brown K, Weghuis DO, Ropers HH, George AL Jr. 1994. Genomic organization of the human voltage-gated Na+ channel β1 subunit gene (SCNIB). Genomics 23:628-634.
-
(1994)
Genomics
, vol.23
, pp. 628-634
-
-
Makita, N.1
Sloan-Brown, K.2
Weghuis, D.O.3
Ropers, H.H.4
George A.L., Jr.5
-
8
-
-
0028231357
-
Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene
-
Malafosse A, Malafosse A, Beck C, Bellet H, Di Capua M, Dulac O, Echenne B, Fusco L, Lucchini P, Ricci S, Sebastianelli R, Feingold J, Baldy-Moulinier M, Vigevano F. 1994. Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene. Ann Neurol 35:479-482.
-
(1994)
Ann Neurol
, vol.35
, pp. 479-482
-
-
Malafosse, A.1
Malafosse, A.2
Beck, C.3
Bellet, H.4
Di Capua, M.5
Dulac, O.6
Echenne, B.7
Fusco, L.8
Lucchini, P.9
Ricci, S.10
Sebastianelli, R.11
Feingold, J.12
Baldy-Moulinier, M.13
Vigevano, F.14
-
9
-
-
85037951662
-
Mutations of the neuronal sodium channel gene SCN1A in two families with generalized epilepsy with febrile seizures plus type 2 (GEFS+2)
-
Moulard B, Chaigne D, Buresi C, Malafosse A, Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E. 2000. Mutations of the neuronal sodium channel gene SCN1A in two families with generalized epilepsy with febrile seizures plus type 2 (GEFS+2). Nature Genet 24:343-345.
-
(2000)
Nature Genet
, vol.24
, pp. 343-345
-
-
Moulard, B.1
Chaigne, D.2
Buresi, C.3
Malafosse, A.4
Escayg, A.5
MacDonald, B.T.6
Meisler, M.H.7
Baulac, S.8
Huberfeld, G.9
An-Gourfinkel, I.10
Brice, A.11
LeGuern, E.12
-
10
-
-
0344117156
-
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHNA4 gene
-
Saenz A, Galan J, Caloustian C, Lorenzo F, Marquez C, Rodriguez N, Jimenez MD, Poza JJ, Cobo AM, Grid D, Prud'homme JF, Lopez de Munain A. 1999. Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHNA4 gene. Arch Neurol 56:1004-1009.
-
(1999)
Arch Neurol
, vol.56
, pp. 1004-1009
-
-
Saenz, A.1
Galan, J.2
Caloustian, C.3
Lorenzo, F.4
Marquez, C.5
Rodriguez, N.6
Jimenez, M.D.7
Poza, J.J.8
Cobo, A.M.9
Grid, D.10
Prud'homme, J.F.11
Lopez De Munain, A.12
-
11
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
-
Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M. 1998. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet 18:25-29.
-
(1998)
Nature Genet
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
Dupont, B.R.4
Leach, R.J.5
Melis, R.6
Ronen, G.M.7
Bjerre, I.8
Quattlebaum, T.9
Murphy, J.V.10
McHarg, M.L.11
Gagnon, D.12
Rosales, T.O.13
Peiffer, A.14
Anderson, V.E.15
Leppert, M.16
-
12
-
-
0028980028
-
A missense mutation in the neuronal nicotic acetyl choline receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Utherland GR, Scheffer IE, Berkovic SF. 1995. A missense mutation in the neuronal nicotic acetyl choline receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet 11:201-203.
-
(1995)
Nature Genet
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
Wallace, R.H.4
Phillips, H.A.5
Utherland, G.R.6
Scheffer, I.E.7
Berkovic, S.F.8
-
13
-
-
0030916583
-
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D. 1997. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 6:943-947.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 943-947
-
-
Steinlein, O.K.1
Magnusson, A.2
Stoodt, J.3
Bertrand, S.4
Weiland, S.5
Berkovic, S.F.6
Nakken, K.O.7
Propping, P.8
Bertrand, D.9
-
14
-
-
0030766418
-
Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16
-
Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AM. 1997. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 61:889-898.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 889-898
-
-
Szepetowski, P.1
Rochette, J.2
Berquin, P.3
Piussan, C.4
Lathrop, G.M.5
Monaco, A.M.6
-
15
-
-
0026776901
-
Benign infantile familial convulsions
-
Vigevano F, Fusco L, Di Capua M, Ricci S, Sebastianelli R, Lucchini P. 1992. Benign infantile familial convulsions. Eur J Pediatr 151:608-612.
-
(1992)
Eur J Pediatr
, vol.151
, pp. 608-612
-
-
Vigevano, F.1
Fusco, L.2
Di Capua, M.3
Ricci, S.4
Sebastianelli, R.5
Lucchini, P.6
-
16
-
-
17344367657
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B
-
Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. 1998. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B. Nature Genet 19:366-370.
-
(1998)
Nature Genet
, vol.19
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
Scheffer, I.E.4
George A.L., Jr.5
Phillips, H.A.6
Saar, K.7
Reis, A.8
Johnson, E.W.9
Sutherland, G.R.10
Berkovic, S.F.11
Mulley, J.C.12
|