-
1
-
-
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 G.M., Monaco A.P. Familial infantile convulsions and paroxysmal choreoathetosis A new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet. 61:1997;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
-
2
-
-
0031793063
-
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome) Confirmation of linkage to human chromosome 16p12-q12 in a Chinese family
-
Lee W.L., Tay A., Ong H.T., Goh L.M., Monaco A.P., Szepetowski P. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome) Confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. Hum Genet. 103:1998;608-612
-
(1998)
Hum Genet
, vol.103
, pp. 608-612
-
-
Lee, W.L.1
Tay, A.2
Ong, H.T.3
Goh, L.M.4
Monaco, A.P.5
Szepetowski, P.6
-
3
-
-
0033707030
-
Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis
-
Hattori H., Fujii T., Nigami H., Higuchi Y., Tsuji M., Hamada Y. Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis. Brain Dev. 22:2000;432-435
-
(2000)
Brain Dev
, vol.22
, pp. 432-435
-
-
Hattori, H.1
Fujii, T.2
Nigami, H.3
Higuchi, Y.4
Tsuji, M.5
Hamada, Y.6
-
4
-
-
0036460969
-
Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: Clinical, EEG, and SPECT characterization of episodic events
-
Thiriaux A., de St Martin A., Vercueil L., et al. Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family Clinical, EEG, and SPECT characterization of episodic events. Mov Disord. 17:2002;98-104
-
(2002)
Mov Disord
, vol.17
, pp. 98-104
-
-
Thiriaux, A.1
De St Martin, A.2
Vercueil, L.3
-
5
-
-
0035097981
-
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
-
Caraballo R., Pavek S., Lemainque A., et al. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet. 68:2001;788-794
-
(2001)
Am J Hum Genet
, vol.68
, pp. 788-794
-
-
Caraballo, R.1
Pavek, S.2
Lemainque, A.3
-
6
-
-
0033361838
-
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
-
Tomita H., Nagamitsu S., Wakui K., et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet. 65:1999;1688-1697
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1688-1697
-
-
Tomita, H.1
Nagamitsu, S.2
Wakui, K.3
-
7
-
-
0033868150
-
Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies
-
Swobada K.J., Soong B., McKenna C., et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions Clinical and linkage studies. Neurology. 55:2000;224-230
-
(2000)
Neurology
, vol.55
, pp. 224-230
-
-
Swobada, K.J.1
Soong, B.2
McKenna, C.3
-
8
-
-
0033960165
-
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
-
Bennett L.B., Roach E.S., Bowcock A.M. A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology. 54:2000;125-130
-
(2000)
Neurology
, vol.54
, pp. 125-130
-
-
Bennett, L.B.1
Roach, E.S.2
Bowcock, A.M.3
-
9
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
Dib C., Faure S., Fizannes C., et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature. 380:1996;152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizannes, C.3
-
10
-
-
0028240980
-
Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping
-
Reed P.W., Davies J.L., Copeman J.B., et al. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nat Genet. 7:1994;390-395
-
(1994)
Nat Genet
, vol.7
, pp. 390-395
-
-
Reed, P.W.1
Davies, J.L.2
Copeman, J.B.3
-
11
-
-
0038491560
-
A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy
-
Leniger T., Kananura C., Hufnagel A., Bertrand S., Bertrand D., Steinlein O.K. A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia. 44:2003;981-985
-
(2003)
Epilepsia
, vol.44
, pp. 981-985
-
-
Leniger, T.1
Kananura, C.2
Hufnagel, A.3
Bertrand, S.4
Bertrand, D.5
Steinlein, O.K.6
-
12
-
-
0031026470
-
Dominance and homozygosity
-
Zlotogora J. Dominance and homozygosity. Am J Med Genet. 68:1997;412-416
-
(1997)
Am J Med Genet
, vol.68
, pp. 412-416
-
-
Zlotogora, J.1
-
13
-
-
0028952247
-
Homozygosity for Waardenburg syndrome
-
Zlotogora J., Lerer I., Bar-David S., Ergaz Z., Abeliovich D. Homozygosity for Waardenburg syndrome. Am J Hum Genet. 56:1995;1173-1178
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1173-1178
-
-
Zlotogora, J.1
Lerer, I.2
Bar-David, S.3
Ergaz, Z.4
Abeliovich, D.5
-
14
-
-
0033009388
-
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease
-
Blumen S.C., Brais B., Korczyn A.D., et al. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann Neurol. 46:1999;115-118
-
(1999)
Ann Neurol
, vol.46
, pp. 115-118
-
-
Blumen, S.C.1
Brais, B.2
Korczyn, A.D.3
-
15
-
-
0034790722
-
Channelopathies: Episodic disorders of the nervous system
-
Ptacek L.J., Fu Y.-H. Channelopathies Episodic disorders of the nervous system. Epilepsia. 42:(Suppl. 5):2001;35-43
-
(2001)
Epilepsia
, vol.42
, Issue.SUPPL. 5
, pp. 35-43
-
-
Ptacek, L.J.1
Fu, Y.-H.2
-
16
-
-
0035828406
-
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
-
Jouvenceau A., Eunson L.H., Spauschus A., et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet. 358:(9284):2001;801-807
-
(2001)
Lancet
, vol.358
, Issue.9284
, pp. 801-807
-
-
Jouvenceau, A.1
Eunson, L.H.2
Spauschus, A.3
-
17
-
-
0032895470
-
A novel mutation in the human voltage-gated potassium channel (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
-
Zuberi S.M., Eunson L.H., Spauschus A., et al. A novel mutation in the human voltage-gated potassium channel (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain. 122:1999;817-825
-
(1999)
Brain
, vol.122
, pp. 817-825
-
-
Zuberi, S.M.1
Eunson, L.H.2
Spauschus, A.3
-
18
-
-
0037077834
-
Sodium-channel defects in benign familial neonatal-infantile seizures
-
Heron S.E., Crossland K.M., Andermann E., et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 360:(9336):2002;851-852
-
(2002)
Lancet
, vol.360
, Issue.9336
, pp. 851-852
-
-
Heron, S.E.1
Crossland, K.M.2
Andermann, E.3
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