-
1
-
-
0000738544
-
Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome
-
Mount LA, Reback S. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch Neurol Psychiatry 1940;44: 841-7.
-
(1940)
Arch Neurol Psychiatry
, vol.44
, pp. 841-847
-
-
Mount, L.A.1
Reback, S.2
-
2
-
-
0014109480
-
Paroxysmal kinesigenic choreoathetosis: an entity within paroxysmal choreoathetosis syndrome
-
Kertesz A. Paroxysmal kinesigenic choreoathetosis: an entity within paroxysmal choreoathetosis syndrome. Description of ten cases including one autopsied. Neurology 1967;17:680-90.
-
(1967)
Description of ten cases including one autopsied. Neurology
, vol.17
, pp. 680-690
-
-
Kertesz, A.1
-
3
-
-
0017616188
-
Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes
-
Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977;2:285-93.
-
(1977)
Ann Neurol
, vol.2
, pp. 285-293
-
-
Lance, J.W.1
-
4
-
-
0019503795
-
Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?
-
Lugaresi E, Cirignotta F. Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome? Sleep 1981;4:129-38.
-
(1981)
Sleep
, vol.4
, pp. 129-138
-
-
Lugaresi, E.1
Cirignotta, F.2
-
5
-
-
0029091303
-
Paroxysmal dyskinesias: clinical features and classification
-
Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571-9.
-
(1995)
Ann Neurol
, vol.38
, pp. 571-579
-
-
Demirkiran, M.1
Jankovic, J.2
-
6
-
-
19944402859
-
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria
-
Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004; 63:2280-7.
-
(2004)
Neurology
, vol.63
, pp. 2280-2287
-
-
Bruno, M.K.1
Hallett, M.2
Gwinn-Hardy, K.3
-
7
-
-
84897920691
-
Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations
-
Tan LC, Methawasin K, Teng EW, et al. Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations. Eur J Neurol 2014;21(4):674-8.
-
(2014)
Eur J Neurol
, vol.21
, Issue.4
, pp. 674-678
-
-
Tan, L.C.1
Methawasin, K.2
Teng, E.W.3
-
9
-
-
0033361838
-
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p112-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 1999;65:1688-97.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1688-1697
-
-
Tomita, H.1
Nagamitsu, S.2
Wakui, K.3
-
10
-
-
84896107052
-
Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes
-
Torisu H, Watanabe K, Shimojima K, et al. Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. Brain Dev 2014;36(4):342-5.
-
(2014)
Brain Dev
, vol.36
, Issue.4
, pp. 342-345
-
-
Torisu, H.1
Watanabe, K.2
Shimojima, K.3
-
11
-
-
84856144700
-
Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
-
Lee HY, Huang Y, Bruneau N, et al. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012; 1(1):2-12.
-
(2012)
Cell Rep
, vol.1
, Issue.1
, pp. 2-12
-
-
Lee, H.Y.1
Huang, Y.2
Bruneau, N.3
-
12
-
-
84860906296
-
Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations
-
Schmidt A, Kumar KR, Redyk K, et al. Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. Arch Neurol 2012;69:668-70.
-
(2012)
Arch Neurol
, vol.69
, pp. 668-670
-
-
Schmidt, A.1
Kumar, K.R.2
Redyk, K.3
-
13
-
-
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, et al. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889-98.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 889-898
-
-
Szepetowski, P.1
Rochette, J.2
Berquin, P.3
-
14
-
-
84871270731
-
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
-
Marini C, Conti V, Mei D, et al. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology 2012;79(21): 2109-14.
-
(2012)
Neurology
, vol.79
, Issue.21
, pp. 2109-2114
-
-
Marini, C.1
Conti, V.2
Mei, D.3
-
15
-
-
84906079191
-
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification
-
Erro R, Sheerin UM, Bhatia KP. Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. Mov Disord 2014;29(9): 1108-16.
-
(2014)
Mov Disord
, vol.29
, Issue.9
, pp. 1108-1116
-
-
Erro, R.1
Sheerin, U.M.2
Bhatia, K.P.3
-
16
-
-
84868088726
-
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine
-
Cloarec R, Bruneau N, Rudolf G, et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology 2012;79(21):2097-103.
-
(2012)
Neurology
, vol.79
, Issue.21
, pp. 2097-2103
-
-
Cloarec, R.1
Bruneau, N.2
Rudolf, G.3
-
17
-
-
84866367603
-
Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
-
Dale RC, Gardiner A, Antony J, et al. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol 2012;54(10):958-60.
-
(2012)
Dev Med Child Neurol
, vol.54
, Issue.10
, pp. 958-960
-
-
Dale, R.C.1
Gardiner, A.2
Antony, J.3
-
18
-
-
84875846094
-
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins
-
Castiglioni C, López I, Riant F, et al. PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. Eur J Paediatr Neurol 2013;17(3):254-8.
-
(2013)
Eur J Paediatr Neurol
, vol.17
, Issue.3
, pp. 254-258
-
-
Castiglioni, C.1
López, I.2
Riant, F.3
-
19
-
-
84871292496
-
PRRT2 mutations cause hemiplegic migraine
-
Riant F, Roze E, Barbance C, et al. PRRT2 mutations cause hemiplegic migraine. Neurology 2012;79(21):2122-4.
-
(2012)
Neurology
, vol.79
, Issue.21
, pp. 2122-2124
-
-
Riant, F.1
Roze, E.2
Barbance, C.3
-
20
-
-
84880503124
-
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation
-
Fabbri M, Marini C, Bisulli F, et al. Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation. Epileptic Disord 2013;15(2):123-7.
-
(2013)
Epileptic Disord
, vol.15
, Issue.2
, pp. 123-127
-
-
Fabbri, M.1
Marini, C.2
Bisulli, F.3
-
21
-
-
83755205987
-
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
-
Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134(Pt 12):3493-501.
-
(2011)
Brain
, vol.134
, pp. 3493-3501
-
-
Wang, J.L.1
Cao, L.2
Li, X.H.3
-
22
-
-
84866251560
-
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population
-
Meneret A, Grabli D, Depienne C, et al. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 2012;79(2):170-4.
-
(2012)
Neurology
, vol.79
, Issue.2
, pp. 170-174
-
-
Meneret, A.1
Grabli, D.2
Depienne, C.3
-
23
-
-
84874194550
-
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes
-
Liu XR, Wu M, He N, et al. Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes Brain Behav 2013;12(2): 234-40.
-
(2013)
Genes Brain Behav
, vol.12
, Issue.2
, pp. 234-240
-
-
Liu, X.R.1
Wu, M.2
He, N.3
-
24
-
-
84866279746
-
Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
-
Hedera P, Xiao J, Puschmann A, et al. Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.BMCNeurol 2012;12:93.
-
(2012)
BMCNeurol
, vol.12
, pp. 93
-
-
Hedera, P.1
Xiao, J.2
Puschmann, A.3
-
26
-
-
84877672164
-
PRRT2 mutations and paroxysmal disorders
-
Méneret A, Gaudebout C, Riant F, et al. PRRT2 mutations and paroxysmal disorders. Eur J Neurol 2013;20(6):872-8.
-
(2013)
Eur J Neurol
, vol.20
, Issue.6
, pp. 872-878
-
-
Méneret, A.1
Gaudebout, C.2
Riant, F.3
-
27
-
-
84880772785
-
Phenomenology and classification of dystonia: a consensus update
-
Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28(7):863-73.
-
(2013)
Mov Disord
, vol.28
, Issue.7
, pp. 863-873
-
-
Albanese, A.1
Bhatia, K.2
Bressman, S.B.3
-
28
-
-
84866061716
-
Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance
-
Friedman J, Olvera J, Silhavy JL, et al. Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. Neurology 2012;79(9):946-8.
-
(2012)
Neurology
, vol.79
, Issue.9
, pp. 946-948
-
-
Friedman, J.1
Olvera, J.2
Silhavy, J.L.3
-
29
-
-
84866105879
-
PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions
-
van Vliet R, Breedveld G, de Rijk-van Andel J, et al. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 2012;79(8):777-84.
-
(2012)
Neurology
, vol.79
, Issue.8
, pp. 777-784
-
-
van Vliet, R.1
Breedveld, G.2
de Rijk-van Andel, J.3
-
30
-
-
84871287650
-
Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes
-
Guerrini R, Mink JW. Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes. Neurology 2012;79(21):2086-8.
-
(2012)
Neurology
, vol.79
, Issue.21
, pp. 2086-2088
-
-
Guerrini, R.1
Mink, J.W.2
-
31
-
-
84883560348
-
PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases
-
Shi CH, Sun SL, Wang JL, et al. PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases. Mov Disord 2013;28(9):1313-4.
-
(2013)
Mov Disord
, vol.28
, Issue.9
, pp. 1313-1314
-
-
Shi, C.H.1
Sun, S.L.2
Wang, J.L.3
-
33
-
-
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;17:717-25.
-
(2002)
Mov Disord
, vol.17
, pp. 717-725
-
-
Spacey, S.D.1
Valente, E.M.2
Wali, G.M.3
-
34
-
-
84899936221
-
Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases
-
Mao CY, Shi CH, Song B, et al. Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases. J Neurol Sci 2014;340(1-2):91-3.
-
(2014)
J Neurol Sci
, vol.340
, Issue.1-2
, pp. 91-93
-
-
Mao, C.Y.1
Shi, C.H.2
Song, B.3
-
35
-
-
34249086525
-
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
-
Bruno MK, Lee HY, Auburger GW, et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007;68:1782-9.
-
(2007)
Neurology
, vol.68
, pp. 1782-1789
-
-
Bruno, M.K.1
Lee, H.Y.2
Auburger, G.W.3
-
36
-
-
0030027095
-
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
-
Auburger G, Ratzlaff T, Lunkes A, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 1996;31(1):90-4.
-
(1996)
Genomics
, vol.31
, Issue.1
, pp. 90-94
-
-
Auburger, G.1
Ratzlaff, T.2
Lunkes, A.3
-
37
-
-
80054888031
-
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect
-
Weber YG, Kamm C, Suls A, et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011;77(10):959-64.
-
(2011)
Neurology
, vol.77
, Issue.10
, pp. 959-964
-
-
Weber, Y.G.1
Kamm, C.2
Suls, A.3
-
38
-
-
19944407549
-
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
-
Lee HY, Xu Y, Huang Y, et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004;13(24):3161-70.
-
(2004)
Hum Mol Genet
, vol.13
, Issue.24
, pp. 3161-3170
-
-
Lee, H.Y.1
Xu, Y.2
Huang, Y.3
-
39
-
-
61849106125
-
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
-
Ghezzi D, Viscomi C, Ferlini A, et al. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet 2009;18(6):1058-64.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.6
, pp. 1058-1064
-
-
Ghezzi, D.1
Viscomi, C.2
Ferlini, A.3
-
40
-
-
79957489941
-
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
-
Shen Y, Lee HY, Rawson J, et al. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum Mol Genet 2011;20(12):2322-32.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.12
, pp. 2322-2332
-
-
Shen, Y.1
Lee, H.Y.2
Rawson, J.3
-
41
-
-
22844445484
-
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder
-
Du W, Bautista JF, Yang H, et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005;37:733-8.
-
(2005)
Nat Genet
, vol.37
, pp. 733-738
-
-
Du, W.1
Bautista, J.F.2
Yang, H.3
-
42
-
-
33745343567
-
Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia
-
Spacey SD, Adams PJ, Lam PC, et al. Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. Neurology 2006;66(10):1588-90.
-
(2006)
Neurology
, vol.66
, Issue.10
, pp. 1588-1590
-
-
Spacey, S.D.1
Adams, P.J.2
Lam, P.C.3
-
43
-
-
45749108564
-
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
-
Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008;118(6):2157-68.
-
(2008)
J Clin Invest
, vol.118
, Issue.6
, pp. 2157-2168
-
-
Weber, Y.G.1
Storch, A.2
Wuttke, T.V.3
-
44
-
-
84255194777
-
Glut1 deficiency syndrome and erythrocyte glucose uptake assay
-
Yang H, Wang D, Engelstad K, et al. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol 2011;70:996-1005.
-
(2011)
Ann Neurol
, vol.70
, pp. 996-1005
-
-
Yang, H.1
Wang, D.2
Engelstad, K.3
-
45
-
-
84888876391
-
Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review
-
Leen WG, Wevers RA, Kamsteeg EJ, et al. Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review. JAMA Neurol 2013;70(11):1440-4.
-
(2013)
JAMA Neurol
, vol.70
, Issue.11
, pp. 1440-1444
-
-
Leen, W.G.1
Wevers, R.A.2
Kamsteeg, E.J.3
-
46
-
-
77953940705
-
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency
-
Dale RC, Melchers A, Fung VS, et al. Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. Dev Med Child Neurol 2010;52(6):583-6.
-
(2010)
Dev Med Child Neurol
, vol.52
, Issue.6
, pp. 583-586
-
-
Dale, R.C.1
Melchers, A.2
Fung, V.S.3
-
48
-
-
84886599479
-
Focal task-specific lower extremity dystonia associated with intense repetitive exercise: a case series
-
pii:S1353-8020(13) 00267-268
-
Katz M, Byl NN, San Luciano M, et al. Focal task-specific lower extremity dystonia associated with intense repetitive exercise: a case series. Parkinsonism Relat Disord 2013;19(11):1033-8 pii:S1353-8020(13) 00267-8.
-
(2013)
Parkinsonism Relat Disord
, vol.19
, Issue.11
, pp. 1033-1038
-
-
Katz, M.1
Byl, N.N.2
San Luciano, M.3
-
49
-
-
0018819651
-
Paroxysmal choreoathetosis: report of five cases and review of the literature
-
Kinast M, Erenberg G, Rothner AD. Paroxysmal choreoathetosis: report of five cases and review of the literature. Pediatrics 1980;65(1):74-7.
-
(1980)
Pediatrics
, vol.65
, Issue.1
, pp. 74-77
-
-
Kinast, M.1
Erenberg, G.2
Rothner, A.D.3
-
50
-
-
0034282218
-
From nocturnal paroxysmal dystonia to nocturnal frontal lobe epilepsy
-
Provini F, Plazzi G, Lugaresi E. From nocturnal paroxysmal dystonia to nocturnal frontal lobe epilepsy. Clin Neurophysiol 2000;111(Suppl 2):S2-8.
-
(2000)
Clin Neurophysiol
, vol.111
, pp. S2-8
-
-
Provini, F.1
Plazzi, G.2
Lugaresi, E.3
-
51
-
-
0025120895
-
Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures
-
Tinuper P, Cerullo A, Cirignotta F, et al. Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia 1990;31(5):549-56.
-
(1990)
Epilepsia
, vol.31
, Issue.5
, pp. 549-556
-
-
Tinuper, P.1
Cerullo, A.2
Cirignotta, F.3
-
53
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11(2):201-3.
-
(1995)
Nat Genet
, vol.11
, Issue.2
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
-
54
-
-
0033763090
-
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
-
De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26(3): 275-6.
-
(2000)
Nat Genet
, vol.26
, Issue.3
, pp. 275-276
-
-
De Fusco, M.1
Becchetti, A.2
Patrignani, A.3
-
55
-
-
0036651546
-
Secondary paroxysmal dyskinesias
-
Blakeley J, Jankovic J. Secondary paroxysmal dyskinesias. Mov Disord 2002a; 17(4):726-34.
-
(2002)
Mov Disord
, vol.17
, Issue.4
, pp. 726-734
-
-
Blakeley, J.1
Jankovic, J.2
-
56
-
-
0036370657
-
Secondary causes of paroxysmal dyskinesias
-
Blakeley J, Jankovic J. Secondary causes of paroxysmal dyskinesias. Adv Neurol 2002b;89:401-20.
-
(2002)
Adv Neurol
, vol.89
, pp. 401-420
-
-
Blakeley, J.1
Jankovic, J.2
-
57
-
-
0033932049
-
Paroxysmal kinesigenic choreoathetosis as a presenting symptom of multiple sclerosis
-
De Seze J, Stojkovic T, Destée M, et al. Paroxysmal kinesigenic choreoathetosis as a presenting symptom of multiple sclerosis. J Neurol 2000;247(6):478-80.
-
(2000)
J Neurol
, vol.247
, Issue.6
, pp. 478-480
-
-
De Seze, J.1
Stojkovic, T.2
Destée, M.3
-
58
-
-
0036653118
-
Orthostatic paroxysmal dystonia
-
Sethi KD, Lee KH, Deuskar V, et al. Orthostatic paroxysmal dystonia. Mov Disord 2002;17(4):841-5.
-
(2002)
Mov Disord
, vol.17
, Issue.4
, pp. 841-845
-
-
Sethi, K.D.1
Lee, K.H.2
Deuskar, V.3
-
59
-
-
77955012240
-
Movement disorders associated with moyamoya disease: a report of 4 new cases and a review of literatures
-
Baik JS, Lee MS. Movement disorders associated with moyamoya disease: a report of 4 new cases and a review of literatures. Mov Disord 2010;25(10): 1482-6.
-
(2010)
Mov Disord
, vol.25
, Issue.10
, pp. 1482-1486
-
-
Baik, J.S.1
Lee, M.S.2
-
60
-
-
0022764762
-
Focal paroxysmal kinesigenic choreoathetosis preceding the development of Steele-Richardson-Olszewski syndrome
-
Adam AM, Orinda DO. Focal paroxysmal kinesigenic choreoathetosis preceding the development of Steele-Richardson-Olszewski syndrome. J Neurol Neurosurg Psychiatr 1986;49(8):957-9.
-
(1986)
J Neurol Neurosurg Psychiatr
, vol.49
, Issue.8
, pp. 957-959
-
-
Adam, A.M.1
Orinda, D.O.2
-
61
-
-
0023004443
-
Sporadic paroxysmal dystonic choreoathetosis associated with basal ganglia calcifications
-
Micheli F, Fernandez Pardal MM, Casas Parera I, et al. Sporadic paroxysmal dystonic choreoathetosis associated with basal ganglia calcifications. Ann Neurol 1986;20(6):750.
-
(1986)
Ann Neurol
, vol.20
, Issue.6
, pp. 750
-
-
Micheli, F.1
Fernandez Pardal, M.M.2
Casas Parera, I.3
-
62
-
-
46849116876
-
Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias
-
Tschopp L, Raina G, Salazar Z, et al. Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias. Parkinsonism Relat Disord 2008;14(5):440-2.
-
(2008)
Parkinsonism Relat Disord
, vol.14
, Issue.5
, pp. 440-442
-
-
Tschopp, L.1
Raina, G.2
Salazar, Z.3
-
63
-
-
0347662213
-
Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease
-
Bozi M, Bhatia KP. Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease. Mov Disord 2003;18(12):1545-7.
-
(2003)
Mov Disord
, vol.18
, Issue.12
, pp. 1545-1547
-
-
Bozi, M.1
Bhatia, K.P.2
-
64
-
-
0032953604
-
Paroxysmal dyskinesias in patients with HIV infection
-
Mirsattari SM, Berry ME, Holden JK, et al. Paroxysmal dyskinesias in patients with HIV infection. Neurology 1999;52(1):109-14.
-
(1999)
Neurology
, vol.52
, Issue.1
, pp. 109-114
-
-
Mirsattari, S.M.1
Berry, M.E.2
Holden, J.K.3
-
65
-
-
0036460852
-
Physiological assessment of paroxysmal dystonia secondary to subacute sclerosing panencephalitis
-
Ondo WG, Verma A. Physiological assessment of paroxysmal dystonia secondary to subacute sclerosing panencephalitis. Mov Disord 2002;17(1):154-7.
-
(2002)
Mov Disord
, vol.17
, Issue.1
, pp. 154-157
-
-
Ondo, W.G.1
Verma, A.2
-
66
-
-
82055165591
-
Oxcarbazepine-responsive paroxysmal kinesigenic dyskinesia in Wilson disease
-
Micheli F, Tschopp L, Cersosimo MG. Oxcarbazepine-responsive paroxysmal kinesigenic dyskinesia in Wilson disease. Clin Neuropharmacol 2011;34(6):262-4.
-
(2011)
Clin Neuropharmacol
, vol.34
, Issue.6
, pp. 262-264
-
-
Micheli, F.1
Tschopp, L.2
Cersosimo, M.G.3
-
67
-
-
14044254231
-
Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome
-
Engelen M, Tijssen MA. Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome. Mov Disord 2005;20(1):111-3.
-
(2005)
Mov Disord
, vol.20
, Issue.1
, pp. 111-113
-
-
Engelen, M.1
Tijssen, M.A.2
-
68
-
-
85027922789
-
Movement disorders in autoimmune diseases
-
Baizabal-Carvallo JF, Jankovic J. Movement disorders in autoimmune diseases. Mov Disord 2012;27(8):935-46.
-
(2012)
Mov Disord
, vol.27
, Issue.8
, pp. 935-946
-
-
Baizabal-Carvallo, J.F.1
Jankovic, J.2
-
69
-
-
3042727932
-
Dyskinesias and associated psychiatric disorders following streptococcal infections
-
Dale RC, Heyman I, Surtees RA, et al. Dyskinesias and associated psychiatric disorders following streptococcal infections. Arch Dis Child 2004;89(7):604-10.
-
(2004)
Arch Dis Child
, vol.89
, Issue.7
, pp. 604-610
-
-
Dale, R.C.1
Heyman, I.2
Surtees, R.A.3
-
70
-
-
79953843909
-
Kinesigenic dyskinesia in a case of voltage-gated potassium channel-complex protein antibody encephalitis
-
Aradillas E, Schwartzman RJ. Kinesigenic dyskinesia in a case of voltage-gated potassium channel-complex protein antibody encephalitis. Arch Neurol 2011; 68(4):529-32.
-
(2011)
Arch Neurol
, vol.68
, Issue.4
, pp. 529-532
-
-
Aradillas, E.1
Schwartzman, R.J.2
-
71
-
-
34248998099
-
Paroxysmal nonkinesigenic dystonia and celiac disease
-
Hall DA, Parsons J, Benke T. Paroxysmal nonkinesigenic dystonia and celiac disease. Mov Disord 2007;22(5):708-10.
-
(2007)
Mov Disord
, vol.22
, Issue.5
, pp. 708-710
-
-
Hall, D.A.1
Parsons, J.2
Benke, T.3
-
72
-
-
67651152808
-
Paroxysmal dystonia associated to primary Sjögren's syndrome
-
Alonso-Navarro H, Arroyo M, Parra A, et al. Paroxysmal dystonia associated to primary Sjögren's syndrome. Mov Disord 2009;24(5):788-90.
-
(2009)
Mov Disord
, vol.24
, Issue.5
, pp. 788-790
-
-
Alonso-Navarro, H.1
Arroyo, M.2
Parra, A.3
-
73
-
-
84863262621
-
Paroxysmal kinesigenic dyskinesia as the initial symptom of Hashimoto encephalopathy
-
Liu MY, Zhang SQ, Hao Y, et al. Paroxysmal kinesigenic dyskinesia as the initial symptom of Hashimoto encephalopathy. CNS Neurosci Ther 2012;18:271-3.
-
(2012)
CNS Neurosci Ther
, vol.18
, pp. 271-273
-
-
Liu, M.Y.1
Zhang, S.Q.2
Hao, Y.3
-
74
-
-
0000751442
-
Paroxysmal choreoathetosis associated with perinatal hypoxic encephalopathy
-
Rosen JA. Paroxysmal choreoathetosis associated with perinatal hypoxic encephalopathy. Arch Neurol 1964;11:385-7.
-
(1964)
Arch Neurol
, vol.11
, pp. 385-387
-
-
Rosen, J.A.1
-
75
-
-
85067756855
-
The paroxysmal dyskinesias
-
Fahn S, Jankovic J, Hallett M, editors
-
Fahn S, Jankovic J, Hallett M. The paroxysmal dyskinesias. In: Fahn S, Jankovic J, Hallett M, editors. Principles and practice of movement disorders. 2nd edition. Philadelphia: Elsevier Sanders; 2011. p. 476-95.
-
(2011)
Principles and practice of movement disorders. 2nd edition. Philadelphia: Elsevier Sanders
, pp. 476-495
-
-
Fahn, S.1
Jankovic, J.2
Hallett, M.3
-
76
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene
-
Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994;8(2):136-40.
-
(1994)
KCNA1. Nat Genet
, vol.8
, Issue.2
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
-
77
-
-
16044370232
-
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca21 channel gene CACNL1A4
-
Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca21 channel gene CACNL1A4. Cell 1996;87(3):543-52.
-
(1996)
Cell
, vol.87
, Issue.3
, pp. 543-552
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
-
78
-
-
22044455177
-
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia
-
Cader MZ, Steckley JL, Dyment DA, et al. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 2005;65(1):156-8.
-
(2005)
Neurology
, vol.65
, Issue.1
, pp. 156-158
-
-
Cader, M.Z.1
Steckley, J.L.2
Dyment, D.A.3
-
79
-
-
0001354047
-
Vestibulo-cerebellar ataxia: a newly defined hereditary syndrome with periodic manifestations
-
Farmer T, Mustian VM. Vestibulo-cerebellar ataxia: a newly defined hereditary syndrome with periodic manifestations. Arch Neurol 1963;8:471-80.
-
(1963)
Arch Neurol
, vol.8
, pp. 471-480
-
-
Farmer, T.1
Mustian, V.M.2
-
80
-
-
0033910736
-
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
-
Escayg A, De Waard M, Lee DD, et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000;66(5):1531-9.
-
(2000)
Am J Hum Genet
, vol.66
, Issue.5
, pp. 1531-1539
-
-
Escayg, A.1
De Waard, M.2
Lee, D.D.3
-
81
-
-
23844500344
-
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
-
Jen JC, Wan J, Howard BD, et al. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 2005;65(4):529-34.
-
(2005)
Neurology
, vol.65
, Issue.4
, pp. 529-534
-
-
Jen, J.C.1
Wan, J.2
Howard, B.D.3
-
82
-
-
34248995041
-
A new episodic ataxia syndrome with linkage to chromosome 19q13
-
Kerber KA, Jen JC, Lee H, et al. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol 2007;64(5):749-52.
-
(2007)
Arch Neurol
, vol.64
, Issue.5
, pp. 749-752
-
-
Kerber, K.A.1
Jen, J.C.2
Lee, H.3
-
83
-
-
84896545793
-
A novel locus for episodic ataxia: UBR4 the likely candidate
-
Conroy J, McGettigan P, Murphy R, et al. A novel locus for episodic ataxia: UBR4 the likely candidate. Eur J Hum Genet 2014;22:505-10.
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 505-510
-
-
Conroy, J.1
McGettigan, P.2
Murphy, R.3
-
84
-
-
0035074056
-
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder
-
Fernandez M, Raskind W, Wolff J, et al. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Ann Neurol 2001;49:486-92.
-
(2001)
Ann Neurol
, vol.49
, pp. 486-492
-
-
Fernandez, M.1
Raskind, W.2
Wolff, J.3
-
85
-
-
84860913828
-
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5
-
Chen YZ, Matsushita MM, Robertson P, et al. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol 2012;69:630-5.
-
(2012)
Arch Neurol
, vol.69
, pp. 630-635
-
-
Chen, Y.Z.1
Matsushita, M.M.2
Robertson, P.3
-
86
-
-
84899953492
-
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia
-
Chen YZ, Friedman JR, Chen DH, et al. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol 2014;75(4):542-9.
-
(2014)
Ann Neurol
, vol.75
, Issue.4
, pp. 542-549
-
-
Chen, Y.Z.1
Friedman, J.R.2
Chen, D.H.3
-
87
-
-
0014494513
-
Paroxysmal torticollis in infancy A possible form of labyrinthitis
-
Snyder CH. Paroxysmal torticollis in infancy. A possible form of labyrinthitis. Am J Dis Child 1969;117(4):458-60.
-
(1969)
Am J Dis Child
, vol.117
, Issue.4
, pp. 458-460
-
-
Snyder, C.H.1
-
88
-
-
0023732301
-
Transient paroxysmal dystonia in infancy
-
Angelini L, Rumi V, Lamperti E, et al. Transient paroxysmal dystonia in infancy. Neuropediatrics 1988;19(4):171-4.
-
(1988)
Neuropediatrics
, vol.19
, Issue.4
, pp. 171-174
-
-
Angelini, L.1
Rumi, V.2
Lamperti, E.3
-
89
-
-
0035214680
-
Paroxysmal tonic upgaze of childhood: effect of age-of-onset on prognosis
-
Verrotti A, Trotta D, Blasetti A, et al. Paroxysmal tonic upgaze of childhood: effect of age-of-onset on prognosis. Acta Paediatr 2001;90:1343-5.
-
(2001)
Acta Paediatr
, vol.90
, pp. 1343-1345
-
-
Verrotti, A.1
Trotta, D.2
Blasetti, A.3
-
91
-
-
84858052269
-
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency
-
Dill P, Wagner M, Somerville A, et al. Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology 2012;78(5):e29-32.
-
(2012)
Neurology
, vol.78
, Issue.5
, pp. e29-32
-
-
Dill, P.1
Wagner, M.2
Somerville, A.3
-
93
-
-
34249756288
-
Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder?
-
Lombroso CT. Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? Ital J Neurol Sci 1995;16(5):271-7.
-
(1995)
Ital J Neurol Sci
, vol.16
, Issue.5
, pp. 271-277
-
-
Lombroso, C.T.1
-
94
-
-
0015723134
-
Paroxysmal kinesigenic choreoathetosis Report of a case relieved by L-dopa
-
Loong SC, Ong YY. Paroxysmal kinesigenic choreoathetosis. Report of a case relieved by L-dopa. J Neurol Neurosurg Psychiatr 1973;31:921-4.
-
(1973)
J Neurol Neurosurg Psychiatr
, vol.31
, pp. 921-924
-
-
Loong, S.C.1
Ong, Y.Y.2
-
95
-
-
0035070844
-
Ictal (99m) Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis
-
Ko CH, Kong CK, Ngai WT, et al. Ictal (99m) Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis. Pediatr Neurol 2001;24:225-7.
-
(2001)
Pediatr Neurol
, vol.24
, pp. 225-227
-
-
Ko, C.H.1
Kong, C.K.2
Ngai, W.T.3
-
96
-
-
25144491062
-
Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis
-
Joo EY, Hong SB, Tae WS, et al. Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis. Eur J Nucl Med Mol Imaging 2005;32:1205-9.
-
(2005)
Eur J Nucl Med Mol Imaging
, vol.32
, pp. 1205-1209
-
-
Joo, E.Y.1
Hong, S.B.2
Tae, W.S.3
-
97
-
-
0031964563
-
Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exerciseinduced paroxysmal dystonia
-
Kluge A, Kettner B, Zschenderlein R, et al. Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exerciseinduced paroxysmal dystonia. Mov Disord 1998;13(1):125-34.
-
(1998)
Mov Disord
, vol.13
, Issue.1
, pp. 125-134
-
-
Kluge, A.1
Kettner, B.2
Zschenderlein, R.3
-
98
-
-
84863011960
-
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia
-
Lee HY, Nakayama J, Xu Y, et al. Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. J Clin Invest 2012;122(2):507-18.
-
(2012)
J Clin Invest
, vol.122
, Issue.2
, pp. 507-518
-
-
Lee, H.Y.1
Nakayama, J.2
Xu, Y.3
-
99
-
-
79954469063
-
Paroxysmal choreodystonic disorders
-
Sohn YH, Lee PH. Paroxysmal choreodystonic disorders. Handb Clin Neurol 2011;100:367-73.
-
(2011)
Handb Clin Neurol
, vol.100
, pp. 367-373
-
-
Sohn, Y.H.1
Lee, P.H.2
-
100
-
-
15744372108
-
Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia
-
Margari L, Presicci A, Ventura P, et al. Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia. Pediatr Neurol 2005;32(4):229-35.
-
(2005)
Pediatr Neurol
, vol.32
, Issue.4
, pp. 229-235
-
-
Margari, L.1
Presicci, A.2
Ventura, P.3
-
101
-
-
57449117909
-
The head nodding syndrome-clinical classification and possible causes
-
Winkler AS, Friedrich K, König R, et al. The head nodding syndrome-clinical classification and possible causes. Epilepsia 2008;49(12):2008-15.
-
(2008)
Epilepsia
, vol.49
, Issue.12
, pp. 2008-2015
-
-
Winkler, A.S.1
Friedrich, K.2
König, R.3
-
102
-
-
84892811055
-
Psychogenic paroxysmal movement disorders - clinical features and diagnostic clues
-
Ganos C, Aguirregomozcorta M, Batla A, et al. Psychogenic paroxysmal movement disorders - clinical features and diagnostic clues. Parkinsonism Relat -Disord 2014;20:41-6.
-
(2014)
Parkinsonism Relat -Disord
, vol.20
, pp. 41-46
-
-
Ganos, C.1
Aguirregomozcorta, M.2
Batla, A.3
-
104
-
-
84875498952
-
Latah: an Indonesian startle syndrome
-
Bakker MJ, van Dijk JG, Pramono A, et al. Latah: an Indonesian startle syndrome. Mov Disord 2013;28(3):370-9.
-
(2013)
Mov Disord
, vol.28
, Issue.3
, pp. 370-379
-
-
Bakker, M.J.1
van Dijk, J.G.2
Pramono, A.3
-
106
-
-
79957599929
-
Paroxysmal dyskinesias
-
Bhatia KP. Paroxysmal dyskinesias. Mov Disord 2011;26(6):1157-65.
-
(2011)
Mov Disord
, vol.26
, Issue.6
, pp. 1157-1165
-
-
Bhatia, K.P.1
-
108
-
-
0035936634
-
Chronic thalamic stimulation for treatment of dystonic paroxysmal nonkinesigenic dyskinesia
-
Loher TJ, Krauss JK, Burgunder JM, et al. Chronic thalamic stimulation for treatment of dystonic paroxysmal nonkinesigenic dyskinesia. Neurology 2001;56(2): 268-70.
-
(2001)
Neurology
, vol.56
, Issue.2
, pp. 268-270
-
-
Loher, T.J.1
Krauss, J.K.2
Burgunder, J.M.3
-
109
-
-
77950651240
-
Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia
-
Kaufman CB, Mink JW, Schwalb JM. Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia. J Neurosurg 2010;112(4):847-50.
-
(2010)
J Neurosurg
, vol.112
, Issue.4
, pp. 847-850
-
-
Kaufman, C.B.1
Mink, J.W.2
Schwalb, J.M.3
-
110
-
-
84918586873
-
Long-term clinical course of Glut1 deficiency syndrome
-
[Epub ahead of print]
-
Alter AS, Engelstad K, Hinton VJ, et al. Long-term clinical course of Glut1 deficiency syndrome. J Child Neurol 2014. [Epub ahead of print].
-
(2014)
J Child Neurol
-
-
Alter, A.S.1
Engelstad, K.2
Hinton, V.J.3
-
111
-
-
79960550901
-
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias
-
Strupp M, Kalla R, Claassen J, et al. A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. Neurology 2011;77(3):269-75.
-
(2011)
Neurology
, vol.77
, Issue.3
, pp. 269-275
-
-
Strupp, M.1
Kalla, R.2
Claassen, J.3
|