MCID: PRX035
MIFTS: 32

Paroxysmal Dyskinesia malady

Neuronal category

Summaries for Paroxysmal Dyskinesia

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 The paroxysmal dyskinesias (PD) are a group of movement disorders characterized by attacks of... more...

MalaCards: Paroxysmal Dyskinesia, also known as dyskinesias, paroxysmal, is related to generalized epilepsy and paroxysmal dyskinesia and episodic ataxia. An important gene associated with Paroxysmal Dyskinesia is KCNMA1 (potassium large conductance calcium-activated channel, subfamily M, alpha member 1). The compounds 4-aminopyridine and l-tryptophan have been mentioned in the context of this disorder.

Aliases & Classifications for Paroxysmal Dyskinesia

Sources:
49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

paroxysmal dyskinesia 49
dyskinesias, paroxysmal 61


External Ids:

MESH via Orphanet36 D002819
ICD10 via Orphanet26 G24.8
UMLS via Orphanet62 C0752210

Related Diseases for Paroxysmal Dyskinesia

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Paroxysmal Dyskinesia:



Diseases related to paroxysmal dyskinesia

Clinical Features for Paroxysmal Dyskinesia

Drugs & Therapeutics for Paroxysmal Dyskinesia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Paroxysmal Dyskinesia

Search CenterWatch for Paroxysmal Dyskinesia

Genetic Tests for Paroxysmal Dyskinesia

Anatomical Context for Paroxysmal Dyskinesia

Animal Models for Paroxysmal Dyskinesia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Paroxysmal Dyskinesia

Sources:
51PubMed
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Articles related to Paroxysmal Dyskinesia:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia. (23176561)
2013
2
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. (23363396)
2013
3
Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation. (23536488)
2013
4
Missense mutations of the proline-rich transmembrane protein 2 gene cosegregate with mild paroxysmal kinesigenic dyskinesia and infantile convulsions in a Chinese pedigree. (23063574)
2013
5
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. (23190448)
2013
6
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. (23182655)
2013
7
Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot. (22386217)
2012
8
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. (22209761)
2012
9
Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. (22985072)
2012
10
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. (22399141)
2012
11
Paroxysmal hypnogenic dyskinesia responsive to doxylamine: a case report. (22937351)
2012
12
Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin. (22464846)
2012
13
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. (22744660)
2012
14
Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families. (21962874)
2012
15
Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. (22782515)
2012
16
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. (22967746)
2012
17
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. (22870186)
2012
18
Paroxysmal craniocervical dyskinesia as manifestation of frontal lobe epilepsy. (21887709)
2011
19
A case of mixed type of paroxysmal dyskinesia: is there an overlap between two clinical categories of paroxysmal dyskinesia? (20585818)
2011
20
Benign infantile seizures and paroxysmal dyskinesia: a well-defined familial syndrome. (21764335)
2011
21
Analyzing clinical and electrophysiological characteristics of Paroxysmal Dyskinesia. (21448393)
2011
22
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? (20803517)
2010
23
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. (20621801)
2010
24
Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. (21060786)
2010
25
Characterization and mode of inheritance of a paroxysmal dyskinesia in Chinook dogs. (21054538)
2010
26
Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. (21204808)
2010
27
Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred. (18948699)
2009
28
Psychogenic paroxysmal dyskinesia: the role of placebo in the diagnosis and management. (19353684)
2009
29
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. (18451999)
2008
30
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. (18577546)
2008
31
Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. (19047496)
2008
32
Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias. (18314374)
2008
33
Neuroanatomical substrates for paroxysmal dyskinesia in lethargic mice. (17561408)
2007
34
Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. (16632198)
2006
35
Channelopathy linked to epilepsy and paroxysmal dyskinesia. (16086497)
2005
36
Psychogenic paroxysmal dyskinesia following paroxysmal hemidystonia in multiple sclerosis. (16186511)
2005
37
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. (15834651)
2005
38
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. (15824259)
2005
39
Sublingual lorazepam in the treatment of familial paroxysmal nonkinesigenic dyskinesia. (15165643)
2004
40
Striatal increase of extracellular dopamine levels during dystonic episodes in a genetic model of paroxysmal dyskinesia. (15207264)
2004
41
Effects of pharmacological manipulations of cannabinoid receptors on severity of dystonia in a genetic model of paroxysmal dyskinesia. (12421641)
2002
42
Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant tottering. (12151038)
2002
43
Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. (12123606)
2002
44
Idiopathic epilepsy and paroxysmal dyskinesia. (11520321)
2001
45
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. (9860304)
1998
46
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. (8659517)
1996
47
Familial Paroxysmal Kinesigenic Dyskinesia (20301633)
1993
48
Paroxysmal dyskinesia associated with hypoglycemia. (8334578)
1993
49
Haloperidol for nonkinesiogenic paroxysmal dyskinesia. (7387459)
1980
50
The ocular tilt reaction. A paroxysmal dyskinesia associated with elliptical nystagmus. (889516)
1977

Genetic Variations for Paroxysmal Dyskinesia

Expression for genes affiliated with Paroxysmal Dyskinesia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Paroxysmal Dyskinesia

Search GEO for disease gene expression data for Paroxysmal Dyskinesia.

Pathways for genes affiliated with Paroxysmal Dyskinesia

Compounds for genes affiliated with Paroxysmal Dyskinesia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 50PharmGKB
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Compounds related to Paroxysmal Dyskinesia according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
14-aminopyridine45 2910.7CNR1, KCNMA1
2l-tryptophan45 29 11 2412.7KMO, SLC16A2
3ns1619299.6KCNMA1, KCNT2, KCNT1
4ns004299.6KCNMA1, KCNT2, KCNT1
5cyppa60 2910.6KCNT1, KCNT2, KCNMA1
6tram 34609.6KCNT1, KCNT2, KCNMA1
7paxilline29 45 6011.6KCNMA1, KCNT2, KCNT1
8iberiotoxin45 60 2911.6KCNT1, KCNT2, KCNMA1
9charybdotoxin45 2910.6KCNMA1, KCNT2, KCNT1
10apamin45 60 2911.5KCNMA1, KCNT2, KCNT1
11glibenclamide45 29 50 6012.5SLC2A1, CNR1, KCNMA1
12gaba459.3SLC2A1, CNR1, KCNMA1
13tetraethylammonium45 29 1111.1KCNT1, KCNT2, KCNMA1, CNR1
14aspirin45 50 29 2412.0SLC2A1, CNR1, KCNMA1
15carbachol45 29 1110.8DYT10, CNR1, SLC2A1
16thapsigargin45 609.7KCNMA1, DYT10, CNR1, SLC2A1
17nmda45 299.7KCNMA1, DYT10, CNR1, KMO
18adenylate458.5SLC2A1, CNR1, DYT10, KCNMA1
19glutamate458.2SLC2A1, KMO, CNR1, DYT10, KCNMA1

GO Terms for genes affiliated with Paroxysmal Dyskinesia

Sources:
16Gene Ontology
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Cellular components related to Paroxysmal Dyskinesia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.3KCNMA1, KCNT2, KCNT1

Biological processes related to Paroxysmal Dyskinesia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to osmotic stressGO:0069709.8SLC2A1, KCNMA1
2potassium ion transmembrane transportGO:0718059.0KCNMA1, KCNT2, KCNT1

Molecular functions related to Paroxysmal Dyskinesia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activityGO:0052499.3KCNMA1, KCNT2, KCNT1
2calcium-activated potassium channel activityGO:0152699.0KCNMA1, KCNT2, KCNT1

Products for genes affiliated with Paroxysmal Dyskinesia

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Sources for Paroxysmal Dyskinesia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet