-
1
-
-
0018073135
-
Familial and acquired paroxysmal dyskinesias: A proposed classification with delineation of clinical features
-
Goodenough DJ, Fariello RG, Annis BL, Chun RWM. Familial and acquired paroxysmal dyskinesias: a proposed classification with delineation of clinical features. Arch Neurol 1978 35 : 827 831.
-
(1978)
Arch Neurol
, vol.35
, pp. 827-831
-
-
Goodenough, D.J.1
Fariello, R.G.2
Annis, B.L.3
Chun, R.W.M.4
-
2
-
-
0033044546
-
Paroxysmal kinesigenic choreoathetosis: A report of 26 patients
-
DOI 10.1007/s004150050318
-
Houser MK, Soland VL, Bhatia KP, Quinn NP, Marsden CD. Paroxysmal kinesigenic choreoathetosis: a report of 26 patients. J Neurol 1999 246 : 120 126. (Pubitemid 29184964)
-
(1999)
Journal of Neurology
, vol.246
, Issue.2
, pp. 120-126
-
-
Houser, M.K.1
Soland, V.L.2
Bhatia, K.P.3
Quinn, N.P.4
Marsden, C.D.5
-
3
-
-
0026001762
-
Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks
-
Hirata K, Katayama S, Saito T, et al. Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks. Epilepsia 1991 32 : 492 494.
-
(1991)
Epilepsia
, vol.32
, pp. 492-494
-
-
Hirata, K.1
Katayama, S.2
Saito, T.3
-
4
-
-
0029687992
-
Paroxysmal choreoathetosis
-
Marsden CD. Paroxysmal choreoathetosis. Adv Neurol 1996 70 : 467 470.
-
(1996)
Adv Neurol
, vol.70
, pp. 467-470
-
-
Marsden, C.D.1
-
5
-
-
0033361838
-
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2- q12.1
-
DOI 10.1086/302682
-
Tomita H, Nagamitsu S, Wakui K, et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet 1999 65 : 1688 1697. (Pubitemid 30468682)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.6
, pp. 1688-1697
-
-
Tomita, H.-A.1
Nagamitsu, S.2
Wakui, K.3
Fukushima, Y.4
Yamada, K.5
Sadamatsu, M.6
Masui, A.7
Konishi, T.8
Matsuishi, T.9
Aihara, M.10
Shimizu, K.11
Hashimoto, K.12
Mineta, M.13
Matsushima, M.14
Tsujita, T.15
Saito, M.16
Tanaka, H.17
Tsuji, S.18
Toshihisa, T.19
Nakamura, Y.20
Nanko, S.21
Kato, N.22
Nakane, Y.23
Niikawa, N.24
more..
-
6
-
-
0033775093
-
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
-
Valente EM, Spacey SD, Wali GM, et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000 123 : 2040 2045.
-
(2000)
Brain
, vol.123
, pp. 2040-2045
-
-
Valente, E.M.1
Spacey, S.D.2
Wali, G.M.3
-
7
-
-
18744402265
-
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
-
Spacey SD, Valente EM, Wali GM, et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord 2002 17 : 717 725.
-
(2002)
Mov Disord
, vol.17
, pp. 717-725
-
-
Spacey, S.D.1
Valente, E.M.2
Wali, G.M.3
-
8
-
-
47549087326
-
Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: A new subtype?
-
Zhou J, Li G, Chen C, Liu D, Xiao B. Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: a new subtype? Epilepsy Res 2008 80 : 171 179.
-
(2008)
Epilepsy Res
, vol.80
, pp. 171-179
-
-
Zhou, J.1
Li, G.2
Chen, C.3
Liu, D.4
Xiao, B.5
-
9
-
-
0033960165
-
A locus for paroxysmal kinesigenic dyskinesia map to human chromosome 16
-
Bennett LB, Roach S, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia map to human chromosome 16. Neurology 2000 54 : 125 130.
-
(2000)
Neurology
, vol.54
, pp. 125-130
-
-
Bennett, L.B.1
Roach, S.2
Bowcock, A.M.3
-
10
-
-
0036993633
-
Paroxysmal kinesigenic dyskinesia and generalized seizures: Clinical and genetic analysis in a Spanish pedigree
-
DOI 10.1055/s-2002-37079
-
Cuenca-Leon E, Cormand B, Thomson T, Macaya A. Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree. Neuropediatrics 2002 33 : 288 293. (Pubitemid 36222139)
-
(2002)
Neuropediatrics
, vol.33
, Issue.6
, pp. 288-293
-
-
Cuenca-Leon, E.1
Cormand, B.2
Thomson, T.3
Macaya, A.4
-
11
-
-
0031786885
-
Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy
-
DOI 10.1016/S0303-8467(98)00038-9, PII S0303846798000389
-
Tan LCS, Tan AKY, Tjia H. Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy. Clin Neurol Neurosurg 1996 100 : 187 192. (Pubitemid 28479837)
-
(1998)
Clinical Neurology and Neurosurgery
, vol.100
, Issue.3
, pp. 187-192
-
-
Tan, L.C.S.1
Tan, A.K.Y.2
Tjia, H.3
-
12
-
-
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. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997 61 : 889 898. (Pubitemid 27418464)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.4
, pp. 889-898
-
-
Szepetowski, P.1
Rochette, J.2
Berquin, P.3
Piussan, C.4
Lathrop, G.M.5
Monaco, A.P.6
-
13
-
-
0033868150
-
Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies
-
Swoboda KJ, Soong B, McKenna C, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 2000 55 : 224 230. (Pubitemid 30604622)
-
(2000)
Neurology
, vol.55
, Issue.2
, pp. 224-230
-
-
Swoboda, K.J.1
Soong, B.-W.2
McKenna, C.3
Brunt, E.R.P.4
Litt, M.5
Bale Jr., J.F.6
Ashizawa, T.7
Bennett, L.B.8
Bowcock, A.M.9
Roach, E.S.10
Gerson, D.11
Matsuura, T.12
Heydemann, P.T.13
Nespeca, M.P.14
Jankovic, J.15
Leppert, M.16
Ptacek, L.J.17
-
14
-
-
0031793063
-
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): Confirmation of linkage to human chromosome 16p12-q12 in a Chinese family
-
DOI 10.1007/s004390050876
-
Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, 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 1998 103 : 608 612. (Pubitemid 28548484)
-
(1998)
Human Genetics
, vol.103
, Issue.5
, 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
-
15
-
-
0035097981
-
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
-
DOI 10.1086/318805
-
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 2001 68 : 788 794. (Pubitemid 32202773)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.3
, pp. 788-794
-
-
Caraballo, R.1
Pavek, S.2
Lemainque, A.3
Gastaldi, M.4
Echenne, B.5
Motte, J.6
Genton, P.7
Cersosimo, R.8
Humbertclaude, V.9
Fejerman, N.10
Monaco, A.P.11
Lathrop, M.G.12
Rochette, J.13
Szepetowski, P.14
-
16
-
-
42949114441
-
Localization and mutation detection for paroxysmal kinesigenic choreoathetosis
-
DOI 10.1007/s12031-007-9012-z
-
Du T, Feng B, Wang X, et al. Localization and Mutation Detection for Paroxysmal Kinesigenic Choreoathetosis. J Mol Neurosci 2008 34 : 101 107. (Pubitemid 351903617)
-
(2008)
Journal of Molecular Neuroscience
, vol.34
, Issue.2
, pp. 101-107
-
-
Du, T.1
Feng, B.2
Wang, X.3
Mao, W.4
Zhu, X.5
Li, L.6
Sun, B.7
Niu, N.8
Liu, Y.9
Wang, Y.10
Chen, B.11
Cai, X.12
Liu, Y.13
-
17
-
-
0033435219
-
Multicenter study of paroxysmal dyskinesias in Japan: Clinical and pedigree analysis
-
DOI 10.1002/1531-8257(199907)14:4<658::AID-MDS1016>3.0.CO;2-7
-
Nagamitsu S, Matsuishi T, Hashimoto K. Multicenter study of paroxysmal dyskinesias in Japan - clinical and pedigree analysis. Mov Disord 1999 14 : 658 663. (Pubitemid 30011460)
-
(1999)
Movement Disorders
, vol.14
, Issue.4
, pp. 658-663
-
-
Nagamitsu, S.1
Matsuishi, T.2
Hashimoto, K.3
Yamashita, Y.4
Aihara, M.5
Shimizu, K.6
Mizuguchi, M.7
Iwamoto, H.8
Saitoh, S.9
Hirano, Y.10
Kato, H.11
Fukuyama, Y.12
Shimada, M.13
-
18
-
-
0036894233
-
A locus for simple pure febrile seizures maps to chromosome 6q22-q24
-
Nabbout R, Prudhomme 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
-
20
-
-
0029041916
-
An evaluation of FASTMAP with emphasis on fine-mapping
-
Müller B, Golla A. An evaluation of FASTMAP with emphasis on fine-mapping. Hum Hered 1995 45 : 199 205.
-
(1995)
Hum Hered
, vol.45
, pp. 199-205
-
-
Müller, B.1
Golla, A.2
-
21
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
DOI 10.1038/380152a0
-
Dib C, Fauré S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996 380 : 152 154. (Pubitemid 26085878)
-
(1996)
Nature
, vol.380
, Issue.6570
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
22
-
-
0003408936
-
-
2nd edn. Baltimore: Johns Hopkins University Press
-
Ott J. Analysis of Human Genetic Linkage, 2nd edn. Baltimore: Johns Hopkins University Press, 1991.
-
(1991)
Analysis of Human Genetic Linkage
-
-
Ott, J.1
-
23
-
-
0032976941
-
Familial paroxysmal kinesigenic choreoathetosis: An electrophysiologic and genotypic analysis
-
DOI 10.1111/j.1528-1157.1999.tb00801.x
-
Sadamatsu M, Masui A, Sakai T, Kunuqi H, Nanko S, Kato N. Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis. Epilepsia 1999 40 : 942 949. (Pubitemid 29316049)
-
(1999)
Epilepsia
, vol.40
, Issue.7
, pp. 942-949
-
-
Sadamatsu, M.1
Masui, A.2
Sakai, T.3
Kunugi, H.4
Nanko, S.-I.5
Kato, N.6
-
24
-
-
18344384060
-
Refinement of the chromosome 16 locus for benign familial infantile convulsions
-
Callenbach PM, van den Boogerd EH, de Coo RF, et al. Refinement of the chromosome 16 locus for benign familial infantile convulsions. Clin Genet 2005 67 : 517 525.
-
(2005)
Clin Genet
, vol.67
, pp. 517-525
-
-
Callenbach, P.M.1
Van Den Boogerd, E.H.2
De Coo, R.F.3
-
25
-
-
57349104012
-
Genetics of infantile seizures with paroxysmal dyskinesia: The infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes
-
Rochette J, Roll P, Szepetowski P. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. J Med Genet 2008 45 : 773 779.
-
(2008)
J Med Genet
, vol.45
, pp. 773-779
-
-
Rochette, J.1
Roll, P.2
Szepetowski, P.3
-
26
-
-
0036260284
-
The neuronal channelopathies
-
Kullmann DM. The neuronal channelopathies. Brain 2002 125 : 1177 1195.
-
(2002)
Brain
, vol.125
, pp. 1177-1195
-
-
Kullmann, D.M.1
-
27
-
-
19944419749
-
The sequence and analysis of duplication-rich human chromosome 16
-
Martin J, Han C, Gordon LA, et al. The sequence and analysis of duplication-rich human chromosome 16. Nature 2004 432 : 9889 9894.
-
(2004)
Nature
, vol.432
, pp. 9889-9894
-
-
Martin, J.1
Han, C.2
Gordon, L.A.3
-
28
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
DOI 10.1126/science.1138659
-
Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007 316 : 445 449. (Pubitemid 46651493)
-
(2007)
Science
, vol.316
, Issue.5823
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Walsh, T.6
Yamrom, B.7
Yoon, S.8
Krasnitz, A.9
Kendall, J.10
Leotta, A.11
Pai, D.12
Zhang, R.13
Lee, Y.-H.14
Hicks, J.15
Spence, S.J.16
Lee, A.T.17
Puura, K.18
Lehtimaki, T.19
Ledbetter, D.20
Gregersen, P.K.21
Bregman, J.22
Sutcliffe, J.S.23
Jobanputra, V.24
Chung, W.25
Warburton, D.26
King, M.-C.27
Skuse, D.28
Geschwind, D.H.29
Gilliam, T.C.30
Ye, K.31
Wigler, M.32
more..
-
29
-
-
34447329548
-
A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation
-
DOI 10.1002/ajmg.a.31837
-
Ghebranious N, Giampietro PF, Wesbrook FP, Rezkalla SH. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation. Am J Med Genet 2007 143 : 1462 1471. (Pubitemid 47051025)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.13
, pp. 1462-1471
-
-
Ghebranious, N.1
Giampietro, P.F.2
Wesbrook, F.P.3
Rezkalla, S.H.4
-
30
-
-
33749043929
-
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
-
Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006 52 : 103 121.
-
(2006)
Neuron
, vol.52
, pp. 103-121
-
-
Lee, J.A.1
Lupski, J.R.2
-
31
-
-
33947620465
-
Paroxysmal kinesigenic choreoathetosis (PKC): Confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families
-
DOI 10.1007/s10038-007-0116-7
-
Kikuchi T, Nomura M, Tomita H, et al. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet 2007 52 : 334 341. (Pubitemid 46496290)
-
(2007)
Journal of Human Genetics
, vol.52
, Issue.4
, pp. 334-341
-
-
Kikuchi, T.1
Nomura, M.2
Tomita, H.3
Harada, N.4
Kanai, K.5
Konishi, T.6
Yasuda, A.7
Matsuura, M.8
Kato, N.9
Yoshiura, K.-I.10
Niikawa, N.11
|