MCID: PRX035
MIFTS: 31

Paroxysmal Dyskinesia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Paroxysmal Dyskinesia

MalaCards integrated aliases for Paroxysmal Dyskinesia:

Name: Paroxysmal Dyskinesia 58 6
Paroxysmal Dystonic Choreoathetosis 58
Paroxysmal Choreoathetosis 58
Paroxysmal Dyskinesias 54

Characteristics:

Orphanet epidemiological data:

58
paroxysmal dyskinesia
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

MESH via Orphanet 44 D002819
ICD10 via Orphanet 33 G24.8
UMLS via Orphanet 72 C0752210
Orphanet 58 ORPHA1431

Summaries for Paroxysmal Dyskinesia

MalaCards based summary : Paroxysmal Dyskinesia, also known as paroxysmal dystonic choreoathetosis, is related to convulsions, familial infantile, with paroxysmal choreoathetosis and familial paroxysmal nonkinesigenic dyskinesia. An important gene associated with Paroxysmal Dyskinesia is PNKD (PNKD Metallo-Beta-Lactamase Domain Containing). Affiliated tissues include brain, parietal lobe and tongue, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 74 The paroxysmal dyskinesias (PD) are a group of movement disorders characterized by attacks of... more...

Related Diseases for Paroxysmal Dyskinesia

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

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 convulsions, familial infantile, with paroxysmal choreoathetosis 32.6 SCN8A PRRT2
2 familial paroxysmal nonkinesigenic dyskinesia 31.1 PRRT2 PNKD
3 episodic kinesigenic dyskinesia 1 31.1 PRRT2 PNKD
4 choreatic disease 30.7 PRRT2 PNKD
5 paroxysmal choreoathetosis 30.6 PRRT2 PCDH19 DNMT1
6 paroxysmal nonkinesigenic dyskinesia 1 30.6 PRRT2 PNKD
7 reflex epilepsy 30.5 PRRT2 PNKD
8 benign epilepsy with centrotemporal spikes 30.1 PRRT2 PNKD PCDH19
9 migraine with or without aura 1 29.7 SCN8A PRRT2 PNKD CNR1
10 alternating hemiplegia of childhood 29.5 PRRT2 PNKD
11 autosomal dominant nocturnal frontal lobe epilepsy 29.4 SCN8A PNKD PCDH19 KCNMA1
12 generalized epilepsy with febrile seizures plus 29.4 SCN8A PRRT2 PCDH19
13 childhood absence epilepsy 29.4 SCN8A PRRT2 PNKD PCDH19
14 spinocerebellar ataxia 27 29.3 SCN8A PNKD FGF14
15 epilepsy 29.3 SCN8A PRRT2 PCDH19 KCNMA1 DNMT1
16 benign familial infantile epilepsy 29.2 SCN8A PRRT2 PNKD PCDH19
17 episodic ataxia 29.1 SCN8A PRRT2 PNKD KCNMA1 FGF14
18 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 12.5
19 dystonia 9 12.3
20 glucose transporter type 1 deficiency syndrome 11.7
21 paroxysmal exertion-induced dyskinesia 11.7
22 movement disease 10.7
23 dystonia 10.6
24 chorea, childhood-onset, with psychomotor retardation 10.4
25 visual epilepsy 10.4
26 seizure disorder 10.4
27 insulinoma 10.4
28 athetosis 10.3
29 ataxia and polyneuropathy, adult-onset 10.3
30 multiple sclerosis 10.3
31 pseudohypoparathyroidism 10.3
32 paroxysmal dystonia 10.3
33 hyperkalemic periodic paralysis 10.2
34 abetalipoproteinemia 10.2
35 ocular motor apraxia 10.2
36 pharyngitis 10.2
37 macrocytic anemia 10.2
38 hemolytic anemia 10.2
39 toxoplasmosis 10.2
40 adcy5-related dyskinesia 10.2
41 periodic paralysis 10.2
42 hereditary dystonia 10.2
43 prrt2-associated paroxysmal movement disorders 10.2
44 hemiplegic migraine 10.2
45 episodic kinesigenic dyskinesia 2 10.2 PRRT2 PNKD
46 head injury 10.2
47 episodic ataxia, type 2 10.1 PNKD KCNMA1
48 dystonia, dopa-responsive 10.1 PRRT2 PNKD
49 cerebellar atrophy, developmental delay, and seizures 10.1 KCNMA1-AS1 KCNMA1
50 torticollis 10.1

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



Diseases related to Paroxysmal Dyskinesia

Symptoms & Phenotypes for Paroxysmal Dyskinesia

MGI Mouse Phenotypes related to Paroxysmal Dyskinesia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 CNR1 DNMT1 FGF14 KCNMA1 KMO PCDH19
2 nervous system MP:0003631 9.61 CNR1 DNMT1 FGF14 KCNMA1 PCDH19 PNKD
3 no phenotypic analysis MP:0003012 9.02 CNR1 DNMT1 KMO PNKD SLC16A2

Drugs & Therapeutics for Paroxysmal Dyskinesia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Physiology of Paroxysmal Hyperkinetic Movement Disorders: A SPECT Study Completed NCT00051337
2 Neurophysiological Studies in Patients With Psychogenic Movement Disorders Completed NCT00056888
3 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Recruiting NCT02510989

Search NIH Clinical Center for Paroxysmal Dyskinesia

Genetic Tests for Paroxysmal Dyskinesia

Anatomical Context for Paroxysmal Dyskinesia

MalaCards organs/tissues related to Paroxysmal Dyskinesia:

40
Brain, Parietal Lobe, Tongue, Thyroid

Publications for Paroxysmal Dyskinesia

Articles related to Paroxysmal Dyskinesia:

(show top 50) (show all 226)
# Title Authors PMID Year
1
{beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia. 54 61
19204046 2009
2
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. 54 61
15937479 2005
3
Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses. 61
31618668 2020
4
Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China. 61
31471687 2019
5
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes. 61
31904124 2019
6
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. 61
31152168 2019
7
Seizures and movement disorders: phenomenology, diagnostic challenges and therapeutic approaches. 61
30796133 2019
8
Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements. 61
31383240 2019
9
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes. 61
30895386 2019
10
Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome. 61
31047728 2019
11
Proportion and spectrum of movement disorders in adolescent and adult patients of autoimmune encephalitis of non-neoplastic aetiology. 61
30455136 2019
12
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 61
31193310 2019
13
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. 61
29956301 2018
14
Paroxysmal Dyskinesia in Children: from Genes to the Clinic. 61
30198221 2018
15
Lesion correlates of secondary paroxysmal dyskinesia in multiple sclerosis. 61
30066284 2018
16
Myofibrillogenesis regulator 1 (MR-1): a potential therapeutic target for cancer and PNKD. 61
29103325 2018
17
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy 61
29545233 2018
18
Pearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy. 61
29967203 2018
19
[Exercise and fasting induced movement disorder in children: think of the GLUT1 deficiency syndrome]. 61
30040286 2018
20
Paroxysmal dyskinesia in the bichon frise. 61
29777080 2018
21
Characterization of Paroxysmal Gluten-Sensitive Dyskinesia in Border Terriers Using Serological Markers. 61
29424456 2018
22
Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients. 61
29356177 2018
23
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. 61
29330545 2018
24
Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report. 61
29892195 2018
25
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly. 61
29346777 2018
26
Clinical commentary on "Paroxysmal kinesigenic dyskinesia-like phenotype in multiple sclerosis" and "Secondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients". 61
28397577 2017
27
Secondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients. 61
28397579 2017
28
[Parasomnia and paroxysmal dyskinesia]. 61
28831514 2017
29
Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations. 61
28703446 2017
30
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. 61
27891564 2017
31
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures. 61
27567911 2016
32
Paroxysmal Dyskinesia in Norwich Terrier Dogs. 61
30838250 2016
33
Paroxysmal dyskinesia on waking: two case reports. 61
27823718 2016
34
Paroxysmal movement disorders: An update. 61
27567459 2016
35
Natural history of canine paroxysmal movement disorders in Labrador retrievers and Jack Russell terriers. 61
27240912 2016
36
Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene. 61
27123484 2016
37
The Efficacy of Topiramate in Benign Paroxysmal Torticollis of Infancy: Report of Four Cases. 61
26956101 2016
38
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 61
26677014 2016
39
Acetazolamide-responsive paroxysmal dyskinesia in a 12-week-old female golden retriever dog. 61
26598936 2016
40
Clinical Features in Border Terrier Dogs with Paroxysmal Involuntary Movements. 61
30713898 2016
41
The clinical and genetic heterogeneity of paroxysmal dyskinesias. 61
26598494 2015
42
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review. 61
26008863 2015
43
De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay. 61
26195193 2015
44
Treatment of paroxysmal dyskinesias in children. 61
25864940 2015
45
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. 61
25730884 2015
46
Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias. 61
26664992 2015
47
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. 61
25107857 2015
48
A rare paroxysmal movement disorder: mixed type of paroxysmal dyskinesia. 61
25720246 2014
49
A case of congenital myopathy masquerading as paroxysmal dyskinesia. 61
25506169 2014
50
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 61
24963779 2014

Variations for Paroxysmal Dyskinesia

ClinVar genetic disease variations for Paroxysmal Dyskinesia:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNKD NM_015488.5(PNKD):c.26C>T (p.Ala9Val)SNV Pathogenic 1892 rs121434511 2:219135284-219135284 2:218270561-218270561
2 DNMT1 NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile)SNV Uncertain significance 599001 rs1202584286 19:10251813-10251813 19:10141137-10141137
3 PCDH19 NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)SNV Uncertain significance 159556 rs376390125 X:99657779-99657779 X:100402781-100402781

Expression for Paroxysmal Dyskinesia

Search GEO for disease gene expression data for Paroxysmal Dyskinesia.

Pathways for Paroxysmal Dyskinesia

GO Terms for Paroxysmal Dyskinesia

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

# Name GO ID Score Top Affiliating Genes
1 integral component of presynaptic membrane GO:0099056 8.62 PRRT2 CNR1

Biological processes related to Paroxysmal Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 8.62 PRRT2 PNKD

Sources for Paroxysmal Dyskinesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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