-
1
-
-
0000025825
-
Genetic heterogeneity in autosomal dominant nocturnal frontal lobe epilepsy
-
Berkovic SF, Phillips HA, Scheffer IE, Lopes-Cendes I, Bhatia KP, Fish DR, Marsden CD, et al (1995) Genetic heterogeneity in autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 36, Suppl 4:147
-
(1995)
Epilepsia
, vol.36
, Issue.SUPPL. 4
, pp. 147
-
-
Berkovic, S.F.1
Phillips, H.A.2
Scheffer, I.E.3
Lopes-Cendes, I.4
Bhatia, K.P.5
Fish, D.R.6
Marsden, C.D.7
-
2
-
-
0031050270
-
Epilepsies with single gene inheritance
-
Berkovic SF, Scheffer IE (1997) Epilepsies with single gene inheritance. Brain Dev 19:13-18
-
(1997)
Brain Dev
, vol.19
, pp. 13-18
-
-
Berkovic, S.F.1
Scheffer, I.E.2
-
3
-
-
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
-
4
-
-
11944260284
-
Alpha3, alpha5 and beta4: Three members of the rat neuronal nicotinic acetylcholine receptor-related gene family form a gene cluster
-
Boulter J, O'Shea-Greenfield A, Duvoisin RM, Connolly JG, Wada E, Jensen A, Gardner PD, et al (1990) Alpha3, alpha5 and beta4: three members of the rat neuronal nicotinic acetylcholine receptor-related gene family form a gene cluster. J Biol Chem 265:4472-4482
-
(1990)
J Biol Chem
, vol.265
, pp. 4472-4482
-
-
Boulter, J.1
O'Shea-Greenfield, A.2
Duvoisin, R.M.3
Connolly, J.G.4
Wada, E.5
Jensen, A.6
Gardner, P.D.7
-
5
-
-
0031974209
-
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
-
Charlier C, Singh NA, Ryan SG, Lewis RB, Reus BE, Leach RJ, Leppert M (1998) A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 18:53-55
-
(1998)
Nat Genet
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
Lewis, R.B.4
Reus, B.E.5
Leach, R.J.6
Leppert, M.7
-
6
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
7
-
-
8544254723
-
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
-
Elmslie FV, Rees M, Williamson MP, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, et al (1997) Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 6:1329-1334
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1329-1334
-
-
Elmslie, F.V.1
Rees, M.2
Williamson, M.P.3
Kerr, M.4
Kjeldsen, M.J.5
Pang, K.A.6
Sundqvist, A.7
-
8
-
-
0026013289
-
Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse
-
Eng CM, Kozak CA, Beaudet AL, Zoghbi HY (1991) Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics 9:278-282
-
(1991)
Genomics
, vol.9
, pp. 278-282
-
-
Eng, C.M.1
Kozak, C.A.2
Beaudet, A.L.3
Zoghbi, H.Y.4
-
9
-
-
10144229353
-
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
-
Engel AG, Ohno K, Milone M, Wang H-L, Nakano S, Bouzat C, Pruitt JN II, et al (1996) New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 5:1217-1227
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1217-1227
-
-
Engel, A.G.1
Ohno, K.2
Milone, M.3
Wang, H.-L.4
Nakano, S.5
Bouzat, C.6
Pruitt II, J.N.7
-
10
-
-
8044248429
-
Linkage mapping of benign familial infantile seizures (BFIC) to chromosome 19q
-
Guipponi M, Rivier F, Vigevano F, Beck C, Crespel A, Echenne B, Lucchini P, et al (1997) Linkage mapping of benign familial infantile seizures (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
-
11
-
-
0027434131
-
How sensitive is PCR-SSCP?
-
Hayashi K, Yandell DW (1993) How sensitive is PCR-SSCP? Hum Mutat 2:338-346
-
(1993)
Hum Mutat
, vol.2
, pp. 338-346
-
-
Hayashi, K.1
Yandell, D.W.2
-
12
-
-
0030697469
-
Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation
-
Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF (1997) Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation. Neurology 49:969-975
-
(1997)
Neurology
, vol.49
, pp. 969-975
-
-
Hayman, M.1
Scheffer, I.E.2
Chinvarun, Y.3
Berlangieri, S.U.4
Berkovic, S.F.5
-
13
-
-
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'Donnovan C, Orr HT, Anderson VE, Ahmann P, et al (1998) Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 7:63-68
-
(1998)
Hum Mol Genet
, vol.7
, pp. 63-68
-
-
Johnson, E.W.1
Dubovsky, J.2
Rich, S.S.3
O'Donnovan, C.4
Orr, H.T.5
Anderson, V.E.6
Ahmann, P.7
-
14
-
-
0030723590
-
2+ permeability, conductance, and gating of human α4-2 nicotinic acetykholine receptors
-
2+ permeability, conductance, and gating of human α4-2 nicotinic acetykholine receptors. J Neurosci 17:9035-9047
-
(1997)
J Neurosci
, vol.17
, pp. 9035-9047
-
-
Kuryatov, A.1
Gerzanich, V.2
Nelson, M.3
Olale, F.4
Lindstrom, J.5
-
15
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
16
-
-
0024502803
-
Benign familial neonatal convulsions linked to genetic markers on chromosome 20
-
Leppert M, Anderson VE, Quattlebaum T, Stauffe D, O'Connell P, Nakamura Y, Lalouel JM, et al (1989) Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 337:647-648
-
(1989)
Nature
, vol.337
, pp. 647-648
-
-
Leppert, M.1
Anderson, V.E.2
Quattlebaum, T.3
Stauffe, D.4
O'Connell, P.5
Nakamura, Y.6
Lalouel, J.M.7
-
17
-
-
0027359350
-
Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
-
Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG (1993) Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 53:670-675
-
(1993)
Am J Hum Genet
, vol.53
, pp. 670-675
-
-
Lewis, T.B.1
Leach, R.J.2
Ward, K.3
O'Connell, P.4
Ryan, S.G.5
-
18
-
-
0028860661
-
Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus
-
Lopes-Cendes I, Phillips HA, Scheffer IE, Mulley JC, Desbiens R, Andermann E, Cendes F, et al (1995) Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus. Epilepsy Res 22:227-233
-
(1995)
Epilepsy Res
, vol.22
, pp. 227-233
-
-
Lopes-Cendes, I.1
Phillips, H.A.2
Scheffer, I.E.3
Mulley, J.C.4
Desbiens, R.5
Andermann, E.6
Cendes, F.7
-
19
-
-
8244225989
-
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetykholine receptor [epsilon] subunit gene: Identification and functional characterization of six new mutations
-
Ohno K, Quiram PA, Milone M, Wang H-L, Harper MC, Pruitt II JN, Brengman JM, et al (1997) Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetykholine receptor [epsilon] subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet 6:753-767
-
(1997)
Hum Mol Genet
, vol.6
, pp. 753-767
-
-
Ohno, K.1
Quiram, P.A.2
Milone, M.3
Wang, H.-L.4
Harper, M.C.5
Pruitt II, J.N.6
Brengman, J.M.7
-
20
-
-
0031931373
-
Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome
-
Oldani A, Zucconi M, Asselta R, Modugno M, Bonati MT, Dalpra L, Makovati M, et al (1998) Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain 121:205-223
-
(1998)
Brain
, vol.121
, pp. 205-223
-
-
Oldani, A.1
Zucconi, M.2
Asselta, R.3
Modugno, M.4
Bonati, M.T.5
Dalpra, L.6
Makovati, M.7
-
21
-
-
0029059069
-
Localization of a gene for partial epilepsy to chromosome 10q
-
Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, Lustenberger A, et al (1995) Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 10:56-60
-
(1995)
Nat Genet
, vol.10
, pp. 56-60
-
-
Ottman, R.1
Risch, N.2
Hauser, W.A.3
Pedley, T.A.4
Lee, J.H.5
Barker-Cummings, C.6
Lustenberger, A.7
-
22
-
-
0028041524
-
The status of online Mendelian inheritance in man (OMIM)
-
Pearson P, Francomano C, Foster P, Bocchini C, Li P, McKusick V (1994) The status of online Mendelian inheritance in man (OMIM). Nucleic Acids Res 22:3470-3473
-
(1994)
Nucleic Acids Res
, vol.22
, pp. 3470-3473
-
-
Pearson, P.1
Francomano, C.2
Foster, P.3
Bocchini, C.4
Li, P.5
McKusick, V.6
-
23
-
-
0030971230
-
SSCP variants within the α4 subunit of the neuronal nicotinic acetykholine receptor gene
-
Phillips HA, Mulley JC (1997) SSCP variants within the α4 subunit of the neuronal nicotinic acetykholine receptor gene. Clin Genet 51:135-136
-
(1997)
Clin Genet
, vol.51
, pp. 135-136
-
-
Phillips, H.A.1
Mulley, J.C.2
-
24
-
-
0029045967
-
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2
-
Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC (1995) Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 10:117-118
-
(1995)
Nat Genet
, vol.10
, pp. 117-118
-
-
Phillips, H.A.1
Scheffer, I.E.2
Berkovic, S.F.3
Hollway, G.E.4
Sutherland, G.R.5
Mulley, J.C.6
-
26
-
-
0027398069
-
The diversity of neuronal nicotinic acetylcholine receptors
-
Sargent PB (1993) The diversity of neuronal nicotinic acetylcholine receptors. Annu Rev Neurosci 16:403-443
-
(1993)
Annu Rev Neurosci
, vol.16
, pp. 403-443
-
-
Sargent, P.B.1
-
27
-
-
0028011992
-
Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
-
Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, Andermann E, et al (1994) Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 343:515-517
-
(1994)
Lancet
, vol.343
, pp. 515-517
-
-
Scheffer, I.E.1
Bhatia, K.P.2
Lopes-Cendes, I.3
Fish, D.R.4
Marsden, C.D.5
Andermann, F.6
Andermann, E.7
-
28
-
-
0028900303
-
Autosomal dominant nocturnal frontal lobe epilepsy: A distinctive clinical disorder
-
_(1995) Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder. Brain 118:61-73
-
(1995)
Brain
, vol.118
, pp. 61-73
-
-
-
29
-
-
0024002480
-
A cDNA clone coding for the structural subunit of a chicken brain nicotinic acetylcholine receptor
-
Schoepfer R, Whiting P, Esch F, Blacker R, Shimasaki S, Lindstrom J (1988) A cDNA clone coding for the structural subunit of a chicken brain nicotinic acetylcholine receptor. Neuron 1:241-248
-
(1988)
Neuron
, vol.1
, pp. 241-248
-
-
Schoepfer, R.1
Whiting, P.2
Esch, F.3
Blacker, R.4
Shimasaki, S.5
Lindstrom, J.6
-
30
-
-
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, et al (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 18:25-29
-
(1998)
Nat 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
-
31
-
-
0029338992
-
Detection of a Cfo1 polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4)
-
Steinlein O (1995) Detection of a Cfo1 polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4). Hum Genet 96:130
-
(1995)
Hum Genet
, vol.96
, pp. 130
-
-
Steinlein, O.1
-
32
-
-
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, et al (1997) An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 6:943-948
-
(1997)
Hum Mol Genet
, vol.6
, pp. 943-948
-
-
Steinlein, O.K.1
Magnusson, A.2
Stoodt, J.3
Bertrand, S.4
Weiland, S.5
Berkovic, S.F.6
Nakken, K.O.7
-
33
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, et al (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11:201-203
-
(1995)
Nat 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
Sutherland, G.R.6
Scheffer, I.E.7
-
34
-
-
0029866498
-
Exonintron structure of the human neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4)
-
Steinlein O, Weiland S, Stoodt J, Propping P (1996) Exonintron structure of the human neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4). Genomics 32:289-294
-
(1996)
Genomics
, vol.32
, pp. 289-294
-
-
Steinlein, O.1
Weiland, S.2
Stoodt, J.3
Propping, P.4
-
35
-
-
15144342084
-
An STS-based radiation hybrid map of the human genome
-
Stewart EA, McKusick KB, Aggarwal A, Bajorek E, Brady S, Chu A, Fang N, et al (1997) An STS-based radiation hybrid map of the human genome. Genome Res 7:422-433
-
(1997)
Genome Res
, vol.7
, pp. 422-433
-
-
Stewart, E.A.1
McKusick, K.B.2
Aggarwal, A.3
Bajorek, E.4
Brady, S.5
Chu, A.6
Fang, N.7
-
36
-
-
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 AP (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.P.6
-
37
-
-
0029881889
-
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
-
Wallace R, Berkovic S, Howell R, Sutherland G, Mulley J (1996) Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 33:308-312
-
(1996)
J Med Genet
, vol.33
, pp. 308-312
-
-
Wallace, R.1
Berkovic, S.2
Howell, R.3
Sutherland, G.4
Mulley, J.5
-
38
-
-
0030460135
-
Dinucleotide polymorphism in the first intron of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4)
-
Weiland S, Steinlein O (1996) Dinucleotide polymorphism in the first intron of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4). Clin Genet 50:433-434
-
(1996)
Clin Genet
, vol.50
, pp. 433-434
-
-
Weiland, S.1
Steinlein, O.2
-
39
-
-
0030602149
-
An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
-
Weiland S, Witzemann V, Villarrael A, Propping P, Steinlein O (1996) An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Letters 398:91-96
-
(1996)
FEBS Letters
, vol.398
, pp. 91-96
-
-
Weiland, S.1
Witzemann, V.2
Villarrael, A.3
Propping, P.4
Steinlein, O.5
-
40
-
-
0026101177
-
Expression of nicotinic acetylcholine receptor subtypes in brain and retina
-
Whiting PJ, Schoepfer R, Conroy WG, Gore M, Keyser KT, Shimasaki S, Esch F, et al (1991) Expression of nicotinic acetylcholine receptor subtypes in brain and retina. Mol Brain Res 10:61-70
-
(1991)
Mol Brain Res
, vol.10
, pp. 61-70
-
-
Whiting, P.J.1
Schoepfer, R.2
Conroy, W.G.3
Gore, M.4
Keyser, K.T.5
Shimasaki, S.6
Esch, F.7
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