MCID: PRX035
MIFTS: 33

Paroxysmal Dyskinesia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Paroxysmal Dyskinesia

MalaCards integrated aliases for Paroxysmal Dyskinesia:

Name: Paroxysmal Dyskinesia 59 6
Paroxysmal Dystonic Choreoathetosis 59
Paroxysmal Choreoathetosis 59
Paroxysmal Dyskinesias 55

Characteristics:

Orphanet epidemiological data:

59
paroxysmal dyskinesia
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MESH via Orphanet 45 D002819
ICD10 via Orphanet 34 G24.8
UMLS via Orphanet 73 C0752210
Orphanet 59 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), and among its related pathways/superpathways is Phase 0 - rapid depolarisation. Affiliated tissues include tongue and parietal lobe, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 75 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 114)
# Related Disease Score Top Affiliating Genes
1 convulsions, familial infantile, with paroxysmal choreoathetosis 32.7 SCN8A PRRT2
2 familial paroxysmal nonkinesigenic dyskinesia 31.3 PRRT2 PNKD
3 episodic kinesigenic dyskinesia 1 31.3 PRRT2 PNKD
4 choreatic disease 31.0 PRRT2 PNKD
5 paroxysmal choreoathetosis 30.8 PRRT2 PNKD AAMP
6 episodic ataxia 30.3 PRRT2 FGF14
7 benign familial infantile epilepsy 29.6 SCN8A PRRT2
8 epilepsy 29.5 SCN8A PRRT2 PCDH19 KCNMA1
9 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 12.5
10 dystonia 9 12.3
11 paroxysmal exertion-induced dyskinesia 11.7
12 glucose transporter type 1 deficiency syndrome 11.7
13 movement disease 10.7
14 dystonia 10.6
15 chorea, childhood-onset, with psychomotor retardation 10.4
16 episodic ataxia, type 2 10.4 PNKD KCNMA1
17 migraine with or without aura 1 10.4
18 visual epilepsy 10.4
19 seizure disorder 10.4
20 episodic kinesigenic dyskinesia 2 10.4 PRRT2 PNKD
21 insulinoma 10.4
22 athetosis 10.3
23 ataxia and polyneuropathy, adult-onset 10.3
24 multiple sclerosis 10.3
25 pseudohypoparathyroidism 10.3
26 paroxysmal dystonia 10.3
27 hyperkalemic periodic paralysis 10.2
28 abetalipoproteinemia 10.2
29 ocular motor apraxia 10.2
30 pharyngitis 10.2
31 macrocytic anemia 10.2
32 hemolytic anemia 10.2
33 toxoplasmosis 10.2
34 adcy5-related dyskinesia 10.2
35 periodic paralysis 10.2
36 benign epilepsy with centrotemporal spikes 10.2
37 hereditary dystonia 10.2
38 prrt2-associated paroxysmal movement disorders 10.2
39 hemiplegic migraine 10.2
40 reflex epilepsy 10.2
41 head injury 10.2
42 paroxysmal nonkinesigenic dyskinesia 1 10.1
43 torticollis 10.1
44 hemidystonia 10.1
45 autosomal dominant nocturnal frontal lobe epilepsy 10.1
46 hypothyroidism 10.1
47 childhood absence epilepsy 10.1
48 focal epilepsy 10.1
49 kernicterus 10.1
50 mct8-specific thyroid hormone cell-membrane transporter deficiency 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:

46
# 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:

41
Tongue, Parietal Lobe

Publications for Paroxysmal Dyskinesia

Articles related to Paroxysmal Dyskinesia:

(show top 50) (show all 223)
# Title Authors PMID Year
1
{beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia. 9 38
19204046 2009
2
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. 9 38
15937479 2005
3
Seizures and movement disorders: phenomenology, diagnostic challenges and therapeutic approaches. 38
30796133 2019
4
Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements. 38
31383240 2019
5
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. 38
31152168 2019
6
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes. 38
30895386 2019
7
Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome. 38
31047728 2019
8
Proportion and spectrum of movement disorders in adolescent and adult patients of autoimmune encephalitis of non-neoplastic aetiology. 38
30455136 2019
9
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 38
31193310 2019
10
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. 38
29956301 2018
11
Paroxysmal Dyskinesia in Children: from Genes to the Clinic. 38
30198221 2018
12
Lesion correlates of secondary paroxysmal dyskinesia in multiple sclerosis. 38
30066284 2018
13
Myofibrillogenesis regulator 1 (MR-1): a potential therapeutic target for cancer and PNKD. 38
29103325 2018
14
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy 38
29545233 2018
15
[Exercise and fasting induced movement disorder in children: think of the GLUT1 deficiency syndrome]. 38
30040286 2018
16
Pearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy. 38
29967203 2018
17
Paroxysmal dyskinesia in the bichon frise. 38
29777080 2018
18
Characterization of Paroxysmal Gluten-Sensitive Dyskinesia in Border Terriers Using Serological Markers. 38
29424456 2018
19
Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients. 38
29356177 2018
20
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. 38
29330545 2018
21
Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report. 38
29892195 2018
22
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly. 38
29346777 2018
23
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". 38
28397577 2017
24
Secondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients. 38
28397579 2017
25
[Parasomnia and paroxysmal dyskinesia]. 38
28831514 2017
26
Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations. 38
28703446 2017
27
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. 38
27891564 2017
28
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures. 38
27567911 2016
29
Paroxysmal Dyskinesia in Norwich Terrier Dogs. 38
30838250 2016
30
Paroxysmal dyskinesia on waking: two case reports. 38
27823718 2016
31
Paroxysmal movement disorders: An update. 38
27567459 2016
32
Natural history of canine paroxysmal movement disorders in Labrador retrievers and Jack Russell terriers. 38
27240912 2016
33
The Efficacy of Topiramate in Benign Paroxysmal Torticollis of Infancy: Report of Four Cases. 38
26956101 2016
34
Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene. 38
27123484 2016
35
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 38
26677014 2016
36
Clinical Features in Border Terrier Dogs with Paroxysmal Involuntary Movements. 38
30713898 2016
37
Acetazolamide-responsive paroxysmal dyskinesia in a 12-week-old female golden retriever dog. 38
26598936 2016
38
The clinical and genetic heterogeneity of paroxysmal dyskinesias. 38
26598494 2015
39
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review. 38
26008863 2015
40
De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay. 38
26195193 2015
41
Treatment of paroxysmal dyskinesias in children. 38
25864940 2015
42
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. 38
25730884 2015
43
Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias. 38
26664992 2015
44
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. 38
25107857 2015
45
A rare paroxysmal movement disorder: mixed type of paroxysmal dyskinesia. 38
25720246 2014
46
A case of congenital myopathy masquerading as paroxysmal dyskinesia. 38
25506169 2014
47
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 38
24963779 2014
48
Paroxysmal dyskinesia suspected as canine epileptoid cramping syndrome in a young Yorkshire terrier dog. 38
24805907 2014
49
[Paroxysmal dyskinesia secondary to non-ketotic hyperglycaemia with a diabetic onset]. 38
24610698 2014
50
Phenotypic characterisation of canine epileptoid cramping syndrome in the Border terrier. 38
24372194 2014

Variations for Paroxysmal Dyskinesia

ClinVar genetic disease variations for Paroxysmal Dyskinesia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PNKD NM_015488.5(PNKD): c.26C> T (p.Ala9Val) single nucleotide variant Pathogenic rs121434511 2:219135284-219135284 2:218270561-218270561
2 PCDH19 NM_001184880.2(PCDH19): c.2359C> T (p.Arg787Cys) single nucleotide variant Uncertain significance rs376390125 X:99657779-99657779 X:100402781-100402781
3 DNMT1 NM_001130823.3(DNMT1): c.3362G> T (p.Ser1121Ile) single nucleotide variant Uncertain significance 19:10251813-10251813 19:10141137-10141137

Expression for Paroxysmal Dyskinesia

Search GEO for disease gene expression data for Paroxysmal Dyskinesia.

Pathways for Paroxysmal Dyskinesia

Pathways related to Paroxysmal Dyskinesia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.5 SCN8A FGF14

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 presynaptic membrane GO:0042734 8.96 PRRT2 CNR1
2 axon GO:0030424 8.8 SCN8A 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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