Aliases & Classifications for Paroxysmal Choreoathetosis

MalaCards integrated aliases for Paroxysmal Choreoathetosis:

Name: Paroxysmal Choreoathetosis 53 6
Paroxysmal Nonkinesigenic Dyskinesia 71

External Ids:

UMLS 71 C1869117

Summaries for Paroxysmal Choreoathetosis

NINDS : 53 Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. Involuntary movements precipitate some attacks, and other attacks occur when the individual has consumed alcohol or caffeine, or is tired or stressed. Attacks can last from 10 seconds to over an hour. Some individuals have lingering muscle tightness after an attack. Paroxysmal choreoathetosis frequently begins in early adolescence. A gene associated with the disorder has been discovered. The same gene is also associated with epilepsy.

MalaCards based summary : Paroxysmal Choreoathetosis, also known as paroxysmal nonkinesigenic dyskinesia, is related to paroxysmal dyskinesia and glut1 deficiency syndrome 2, and has symptoms including torticollis, myokymia and dystonia, paroxysmal. An important gene associated with Paroxysmal Choreoathetosis is PRRT2 (Proline Rich Transmembrane Protein 2). Affiliated tissues include brain, globus pallidus and parietal lobe, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Paroxysmal Choreoathetosis

Diseases related to Paroxysmal Choreoathetosis via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 58, show less)
# Related Disease Score Top Affiliating Genes
1 paroxysmal dyskinesia 31.7 PRRT2 PCDH19 DNMT1
2 glut1 deficiency syndrome 2 29.8 SLC2A1 PRRT2
3 movement disease 29.7 SLC2A1 PRRT2
4 visual epilepsy 29.7 SLC2A1 PRRT2
5 benign familial infantile epilepsy 29.3 SLC2A1 PRRT2 PCDH19
6 epilepsy 28.3 SLC2A1 PRRT2 PCDH19 DNMT1
7 convulsions, familial infantile, with paroxysmal choreoathetosis 13.0
8 dystonia 9 12.3
9 paroxysmal nonkinesigenic dyskinesia 1 12.2
10 episodic kinesigenic dyskinesia 1 11.7
11 glucose transporter type 1 deficiency syndrome 11.7
12 familial paroxysmal nonkinesigenic dyskinesia 11.4
13 chorea, childhood-onset, with psychomotor retardation 10.3
14 choreatic disease 10.3
15 migraine with or without aura 1 10.3
16 seizure disorder 10.3
17 reflex epilepsy 10.2
18 dystonia 10.2
19 head injury 10.2
20 spasticity 10.2
21 seizures, benign familial neonatal, 1 10.0
22 huntington disease 10.0
23 ocular motor apraxia 10.0
24 ataxia and polyneuropathy, adult-onset 10.0
25 glut1 deficiency syndrome 1 10.0
26 sydenham chorea 10.0
27 basal ganglia calcification 10.0
28 hypoparathyroidism 10.0
29 hypoglycemic coma 10.0
30 hereditary spastic paraplegia 10.0
31 diabetes mellitus 10.0
32 episodic ataxia 10.0
33 hypoglycemia 10.0
34 adcy5-related dyskinesia 10.0
35 spastic paraparesis 10.0
36 encephalopathy 10.0
37 febrile seizures 10.0
38 infantile epilepsy syndrome 10.0
39 benign familial neonatal epilepsy 9.9 PRRT2 PCDH19
40 infancy electroclinical syndrome 9.9 PRRT2 PCDH19
41 dystonia, dopa-responsive 9.8 SLC2A1 PRRT2
42 generalized epilepsy with febrile seizures plus 9.8 PRRT2 PCDH19
43 childhood electroclinical syndrome 9.8 SLC2A1 PCDH19
44 alternating hemiplegia of childhood 9.8 SLC2A1 PRRT2
45 dystonia 12 9.8 SLC2A1 PCDH19
46 lennox-gastaut syndrome 9.8 SLC2A1 PCDH19
47 migraine with aura 9.7 SLC2A1 PRRT2
48 epilepsy, myoclonic juvenile 9.7 SLC2A1 PCDH19
49 focal epilepsy 9.7 SLC2A1 PCDH19
50 west syndrome 9.7 SLC2A1 PCDH19
51 strabismus 9.5 SLC2A1 PCDH19
52 electroclinical syndrome 9.5 SLC2A1 PRRT2 PCDH19
53 epileptic encephalopathy, early infantile, 6 9.5 SLC2A1 PRRT2 PCDH19
54 benign epilepsy with centrotemporal spikes 9.5 SLC2A1 PRRT2 PCDH19
55 childhood absence epilepsy 9.5 SLC2A1 PRRT2 PCDH19
56 epilepsy, idiopathic generalized 9.5 SLC2A1 PRRT2 PCDH19
57 early infantile epileptic encephalopathy 9.5 SLC2A1 PRRT2 PCDH19
58 pervasive developmental disorder 9.2 PCDH19 DNMT1

Graphical network of the top 20 diseases related to Paroxysmal Choreoathetosis:



Diseases related to Paroxysmal Choreoathetosis

Symptoms & Phenotypes for Paroxysmal Choreoathetosis

UMLS symptoms related to Paroxysmal Choreoathetosis:


torticollis, myokymia, dystonia, paroxysmal

MGI Mouse Phenotypes related to Paroxysmal Choreoathetosis:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 DNMT1 PCDH19 PRRT2 SLC2A1
2 nervous system MP:0003631 8.92 DNMT1 PCDH19 PRRT2 SLC2A1

Drugs & Therapeutics for Paroxysmal Choreoathetosis

Search Clinical Trials , NIH Clinical Center for Paroxysmal Choreoathetosis

Genetic Tests for Paroxysmal Choreoathetosis

Anatomical Context for Paroxysmal Choreoathetosis

MalaCards organs/tissues related to Paroxysmal Choreoathetosis:

40
Brain, Globus Pallidus, Parietal Lobe

Publications for Paroxysmal Choreoathetosis

Articles related to Paroxysmal Choreoathetosis:

(showing 135, show less)
# Title Authors PMID Year
1
Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy. 61
32237035 2020
2
KCNMA1-linked channelopathy. 61
31427379 2019
3
Paroxysmal Dyskinesia in Children: from Genes to the Clinic. 61
30198221 2018
4
Myofibrillogenesis regulator 1 (MR-1): a potential therapeutic target for cancer and PNKD. 61
29103325 2018
5
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy 61
29545233 2018
6
Phenotypes, genotypes, and the management of paroxysmal movement disorders. 61
29600549 2018
7
A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification. 61
28556368 2017
8
Classification of involuntary movements in dogs: Paroxysmal dyskinesias. 61
28190498 2017
9
Movement disorders in multiple sclerosis and their treatment. 61
27874491 2016
10
Effective Treatment of Paroxysmal Nonkinesigenic Dyskinesia With Oxcarbazepine. 61
27046658 2016
11
Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients. 61
27098784 2016
12
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 61
26677014 2016
13
Clinical Features in Border Terrier Dogs with Paroxysmal Involuntary Movements. 61
30713898 2016
14
A New Alternative Drug With Fewer Adverse Effects in the Treatment of Sydenham Chorea: Levetiracetam Efficacy in a Child. 61
26166232 2015
15
Treatment of paroxysmal dyskinesias in children. 61
25864940 2015
16
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. 61
25730884 2015
17
Paroxysmal movement disorders. 61
25432727 2015
18
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. 61
25107857 2015
19
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. 61
25453601 2015
20
[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis]. 61
25449067 2014
21
A rare paroxysmal movement disorder: mixed type of paroxysmal dyskinesia. 61
25720246 2014
22
[PRRT2 gene-related paroxysmal disorders]. 61
25297589 2014
23
Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review. 61
30363920 2014
24
Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. 61
23768507 2014
25
Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation. 61
24074546 2014
26
Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus. 61
25359315 2014
27
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. 61
24370076 2013
28
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. 61
23073245 2013
29
Striatal infarct with paroxysmal nonkinesigenic dyskinesia. 61
22975836 2013
30
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. 61
23190448 2013
31
Paroxysmal nonkinesigenic dyskinesia with tremor. 61
24171125 2013
32
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. 61
22967746 2012
33
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. 61
23077026 2012
34
Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin. 61
22464846 2012
35
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 61
22209761 2012
36
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. 61
22214848 2012
37
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 61
21832227 2011
38
Paroxysmal choreodystonic disorders. 61
21496595 2011
39
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. 61
20716510 2010
40
Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families. 61
20158512 2010
41
Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia. 61
19799495 2010
42
Paroxysmal nonkinesigenic dyskinesia with depression treated by bilateral electroconvulsive therapy. 61
20686148 2010
43
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. 61
19589464 2009
44
Genetics of paroxysmal dyskinesias. 61
19348709 2009
45
Paroxysmal dyskinesias. 61
19364451 2009
46
[Paroxysmal dyskinesias]. 61
19222019 2009
47
Paroxysmal dyskinesia as an unusual and only presentation of subcortical white matter ischaemia: a report of two cases. 61
19803303 2008
48
Paroxysmal dyskinesias. 61
18025931 2007
49
Levetiracetam-responding paroxysmal nonkinesigenic dyskinesia. 61
17762321 2007
50
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. 61
17515540 2007
51
New family with paroxysmal exercise-induced dystonia and epilepsy. 61
17290464 2007
52
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. 61
16972263 2006
53
Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. 61
16901678 2006
54
Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. 61
16632198 2006
55
Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. 61
16717228 2006
56
Complete suppression of paroxysmal nonkinesigenic dyskinesia by globus pallidus internus pallidal stimulation. 61
16267844 2006
57
[Oxcarbazepine in the treatment of kinesigenic paroxysmal choreoathetosis]. 61
16138291 2005
58
Benign familial infantile convulsions: phenotypic variability in a family. 61
15996407 2005
59
Familial Paroxysmal Nonkinesigenic Dyskinesia 61
20301400 2005
60
Benign familial infantile seizures. 61
15737697 2005
61
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. 61
15824259 2005
62
Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome. 61
15390045 2005
63
Sublingual lorazepam in the treatment of familial paroxysmal nonkinesigenic dyskinesia. 61
15165643 2004
64
Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family. 61
15165638 2004
65
Paroxysmal Dyskinesias in Children. 61
12791193 2003
66
Paroxysmal kinesigenic dyskinesias. 61
12785750 2003
67
Benign familial infantile seizures: further delineation of the syndrome. 61
12503648 2002
68
Glucose Transporter Type 1 Deficiency Syndrome 61
20301603 2002
69
Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events. 61
11835445 2002
70
[Kinesigenic paroxysmal choreoathetosis: contribution of SPECT]. 61
11333784 2001
71
Chronic thalamic stimulation for treatment of dystonic paroxysmal nonkinesigenic dyskinesia. 61
11160971 2001
72
Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis. 61
11102728 2000
73
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. 61
11004121 2000
74
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 61
10766892 2000
75
[Physiopathology and treatment of major abnormal movements. 11. Paroxysmal choreoathetosis]. 61
10876927 2000
76
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. 61
10636137 2000
77
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. 61
10577923 1999
78
[Paroxysmal dyskinesis and epilepsy]. 61
10791041 1999
79
Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications. 61
10221464 1999
80
Paroxysmal dyskinesias in patients with HIV infection. 61
9921856 1999
81
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. 61
9860304 1998
82
Episodic ataxia and channelopathies. 61
9533553 1998
83
Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis. 61
9371903 1997
84
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. 61
9382100 1997
85
Paroxysmal choreoathetosis--a disorder related to Huntington's disease? 61
9249629 1997
86
[Diurnal and nocturnal paroxysmal dyskinesia in young children: a new entity?]. 61
9296145 1997
87
Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia. 61
9087991 1997
88
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. 61
8808284 1996
89
Paroxysmal choreoathetosis. 61
8791017 1996
90
Paroxysmal choreoathetosis. 61
8615227 1996
91
Paroxysmal dyskinesias: clinical features and classification. 61
7574453 1995
92
Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? 61
8537215 1995
93
[Kinesigenic paroxysmal choreoathetosis. Report of a case treated with carbamazepine]. 61
7893220 1994
94
[Advances in the treatment of the dystonias]. 61
1804033 1991
95
[Paroxysmal choreoathetosis]. 61
1885121 1991
96
Paroxysmal choreoathetosis precipitated by movement, sound and photic stimulation in a case of arterio-venous malformation in the parietal lobe. 61
1660380 1991
97
[Advances in the treatment of the dystonias]. 61
1810206 1991
98
[Kinesic paroxysmal familial choreoathetosis: presentation of a case]. 61
2635846 1989
99
Typical and atypical forms of paroxysmal choreoathetosis. 61
2806747 1989
100
Flunarizine in paroxysmal choreoathetosis. 61
2739874 1989
101
Paroxysmal choreoathetosis as presenting symptom of diabetes mellitus. 61
2709027 1989
102
[Carbamazepine in paroxysmal choreoathetosis in Sydenham's chorea]. 61
2930082 1989
103
[Paroxysmal choreoathetosis in hypoglycemic coma]. 61
3784663 1986
104
Paroxysmal choreoathetosis after head injury. 61
3746316 1986
105
Autosomal dominant episodic ataxia: a heterogeneous syndrome. 61
3504247 1986
106
[Familial paroxysmal choreoathetosis treated with carbamazepine]. 61
4083621 1985
107
Therapeutic blood levels of phenytoin in treatment of paroxysmal choreoathetosis. 61
3887671 1985
108
Paroxysmal choreoathetosis due to hypoglycemia. 61
6696659 1984
109
[Phenytoin-induced paroxysmal choreoathetosis]. 61
6442766 1984
110
[Familial paroxysmal choreoathetosis. Report of 2 cases in one family]. 61
6661101 1983
111
Idiopathic paroxysmal choreoathetosis--report of 2 cases and review of literature. 61
6672565 1983
112
Paroxysmal kinesigenic choreoathetosis. Case report. 61
6643002 1983
113
Therapeutic aspects of kinesiogenic paroxysmal choreoathetosis and familial paroxysmal choreoathetosis of the Mount and Reback type. 61
6197511 1983
114
[Kinesigenic paroxysmal choreoathetosis. Observations apropos of 1 case]. 61
6665452 1983
115
Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness. 61
7206405 1981
116
Valproic acid and normal computerized tomographic scan in kinesiogenic familial paroxysmal choreoathetosis. 61
6770800 1980
117
Paroxysmal choreoathetosis: report of five cases and review of the literature. 61
7355039 1980
118
Paroxysmal choreoathetosis associated with thyrotosicosis. 61
518039 1979
119
[Familial paroxysmal choreoathetosis. Clinical course, L-dopa-effect (author's transl)]. 61
661837 1978
120
Ten year follow-up of paroxysmal choreoathetosis: a sporadic case becomes familial. 61
639769 1978
121
Paroxysmal choreoathetosis following head injury. 61
617585 1977
122
Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. 61
617268 1977
123
Paroxysmal choreoathetosis as a presenting symptom in idiopathic hypoparathyroidism. 61
915513 1977
124
[Paroxysmal choreoathetosis (report of a case)]. 61
883523 1977
125
Paroxysmal choreoathetosis. Report of Chinese cases. 61
4268204 1973
126
[A case of movement-induced (kinesigenic) paroxysmal choreoathetosis with familial thyroxine-binding globulin deficiency]. 61
5000173 1971
127
Paroxysmal choreoathetosis. 61
5358018 1969
128
Chorea as a manifestation of familial paroxysmal choreoathetosis. 61
5689676 1968
129
Paroxysmal choreoathetosis and seizures induced by movement (reflex epilepsy). 61
5238718 1967
130
Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. 61
6067487 1967
131
Paroxysmal choreoathetosis. 61
4228695 1967
132
An uncommon seizure disorder: familial paroxysmal choreoathetosis. 61
5939038 1966
133
[Paroxysmal choreoathetosis (on the clinical picture of Rülf's spasm)]. 61
6000311 1966
134
PAROXYSMAL CHOREOATHETOSIS. ASSOCIATED WITH PERINATAL HYPOXIC ENCEPHALOPATHY. 61
14196731 1964
135
Familial paroxysmal choreoathetosis of Mount and Reback; study of a second family in which this condition is found in association with epilepsy. 61
14911265 1952

Variations for Paroxysmal Choreoathetosis

ClinVar genetic disease variations for Paroxysmal Choreoathetosis:

6 (showing 2, show less) ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNMT1 NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile)SNV Uncertain significance 599001 rs1202584286 19:10251813-10251813 19:10141137-10141137
2 PCDH19 NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)SNV Uncertain significance 159556 rs376390125 X:99657779-99657779 X:100402781-100402781

Expression for Paroxysmal Choreoathetosis

Search GEO for disease gene expression data for Paroxysmal Choreoathetosis.

Pathways for Paroxysmal Choreoathetosis

GO Terms for Paroxysmal Choreoathetosis

Cellular components related to Paroxysmal Choreoathetosis according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 8.96 SLC2A1 PRRT2
2 presynapse GO:0098793 8.62 SLC2A1 PRRT2

Sources for Paroxysmal Choreoathetosis

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