EKD1
MCID: EPS030
MIFTS: 52

Episodic Kinesigenic Dyskinesia 1 (EKD1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Kinesigenic Dyskinesia 1

MalaCards integrated aliases for Episodic Kinesigenic Dyskinesia 1:

Name: Episodic Kinesigenic Dyskinesia 1 57 12 53 74 13 15
Paroxysmal Kinesigenic Dyskinesia 57 53 25 59 74 29 6
Paroxysmal Kinesigenic Choreoathetosis 57 12 53 25 74 72
Dystonia 10 57 53 25 74 29 6
Familial Paroxysmal Kinesigenic Dyskinesia 53 25 59
Paroxysmal Kinesigenic Choreathetosis 53 59
Familial Paroxysmal Dystonia 25 74
Familial Pkd 53 59
Dyt10 57 74
Ekd1 57 74
Pkc 57 74
Pkd 57 74
Paroxysmal Kinesigenic Choreoathetosis; Pkc 57
Paroxysmal Kinesigenic Dyskinesia; Pkd 57
Episodic Kinesigenic Dyskinesia 25
Dystonia, Familial Paroxysmal 57
Dystonia 10; Dyt10 57
Dystonia, Type 10 40
Dyt-Prrt2 53

Characteristics:

Orphanet epidemiological data:

59
paroxysmal kinesigenic dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
incomplete penetrance
onset in childhood or adolescence (median age of 9 years)
increased male-to-female ratio (3-4 to 1)
symptoms precipitated by sudden movements
favorable response to anticonvulsants
symptoms often decrease or remit with age
prevalence of 1 in 150,000

Inheritance:
autosomal dominant


HPO:

32
episodic kinesigenic dyskinesia 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090053
MeSH 44 D004421
ICD10 33 G24.8
ICD10 via Orphanet 34 G24.8
UMLS via Orphanet 73 C1868682
Orphanet 59 ORPHA98809
UMLS 72 C1868682

Summaries for Episodic Kinesigenic Dyskinesia 1

Genetics Home Reference : 25 Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body. People with familial paroxysmal kinesigenic dyskinesia experience episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled. An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); or, rarely, flailing movements of the limbs (ballismus). Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body. The type of abnormal movement varies among affected individuals, even among members of the same family. In many people with familial paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura immediately precedes the episode. The aura is often described as a crawling or tingling sensation in the affected body part. Individuals with this condition do not lose consciousness during an episode and do not experience any symptoms between episodes. Individuals with familial paroxysmal kinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or adolescence. Episodes typically last less than five minutes, and the frequency of episodes ranges from one per month to 100 per day. In most affected individuals, episodes occur less often with age. In some people with familial paroxysmal kinesigenic dyskinesia the disorder begins in infancy with recurring seizures called benign infantile convulsions. These seizures usually develop in the first year of life and stop by age 3. When benign infantile convulsions are associated with familial paroxysmal kinesigenic dyskinesia, the condition is known as infantile convulsions and choreoathetosis (ICCA). In families with ICCA, some individuals develop only benign infantile convulsions, some have only familial paroxysmal kinesigenic dyskinesia, and others develop both.

MalaCards based summary : Episodic Kinesigenic Dyskinesia 1, also known as paroxysmal kinesigenic dyskinesia, is related to paroxysmal choreoathetosis and episodic ataxia, and has symptoms including dystonia and dystonia, paroxysmal. An important gene associated with Episodic Kinesigenic Dyskinesia 1 is PRRT2 (Proline Rich Transmembrane Protein 2), and among its related pathways/superpathways is Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include brain, testes and cortex, and related phenotypes are chorea and dyskinesia

Disease Ontology : 12 A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.

NIH Rare Diseases : 53 Paroxysmal kinesigenic choreoathetosis involves episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled. Cold, hyperventilation, and mental tension have also been reported to trigger attacks in some cases. The exact type of abnormal movement varies among affected individuals but may include prolonged muscle contractions, writhing motions, or fast, "dance-like" motions. One or both sides of the body may be affected. The episodes can sometimes be preceded by a crawling or tingling sensation in the affected body part and do not involve a loss of consciousness. Individuals with paroxysmal kinesigenic choreoathetosis usually begin to show signs and symptoms of the disorder during childhood or adolescence. Episodes typically last less than 5 minutes, though they may last up to several hours. The frequency of episodes ranges from one per month to 100 per day. In most cases, the episodes occur less often with age.

OMIM : 57 Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by Chen et al., 2011). PKC shares some clinical features with benign familial infantile convulsions (BFIC2; 605751) and infantile convulsions and paroxysmal choreoathetosis (ICCA; 602066), which are allelic disorders. See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to chromosome 16p12-p11.2. (128200)

UniProtKB/Swiss-Prot : 74 Episodic kinesigenic dyskinesia 1: An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.

Related Diseases for Episodic Kinesigenic Dyskinesia 1

Diseases in the Episodic Kinesigenic Dyskinesia 1 family:

Episodic Kinesigenic Dyskinesia 2

Diseases related to Episodic Kinesigenic Dyskinesia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 600)
# Related Disease Score Top Affiliating Genes
1 paroxysmal choreoathetosis 31.4 PRRT2 PNKD
2 episodic ataxia 31.0 PRRT2 KCNA1
3 familial paroxysmal nonkinesigenic dyskinesia 30.7 PRRT2 PNKD
4 episodic kinesigenic dyskinesia 2 30.6 PRRT2 PNKD EKD2
5 choreatic disease 30.5 PRRT2 PNKD
6 hemidystonia 30.1 PRKD1 PNKD
7 polycystic kidney disease 12.2
8 polycystic kidney disease 4 with or without polycystic liver disease 12.0
9 clcn2-related leukoencephalopathy 11.9
10 cystic kidney disease 11.9
11 immunodeficiency 26 with or without neurologic abnormalities 11.7
12 paroxysmal exertion-induced dyskinesia 11.7
13 autosomal dominant polycystic kidney disease 11.6
14 spinocerebellar ataxia 14 11.6
15 seizures, benign familial infantile, 5 11.6
16 polycystic kidney disease 2 with or without polycystic liver disease 11.5
17 polycystic kidney disease 3 with or without polycystic liver disease 11.4
18 polycystic liver disease 11.3
19 convulsions, familial infantile, with paroxysmal choreoathetosis 11.3
20 seizures, benign familial infantile, 2 11.3
21 pyruvate kinase deficiency of red cells 11.2
22 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.1
23 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.1
24 congenital hepatic fibrosis 11.1
25 reflex epilepsy 10.6
26 benign familial infantile epilepsy 10.6
27 hypoparathyroidism 10.6
28 epilepsy 10.6
29 dystonia 10.6
30 neuroblastoma 1 10.5
31 pertussis 10.5
32 athetosis 10.5
33 febrile seizures 10.5
34 multiple sclerosis 10.5
35 glioma 10.4
36 glial tumor 10.4
37 myotonia congenita 10.4
38 tic disorder 10.4
39 hemiplegic migraine 10.4
40 myotonia 10.4
41 infantile epilepsy syndrome 10.4
42 rare movement disorder 10.4
43 autism 10.4
44 prrt2-associated paroxysmal movement disorders 10.4
45 16p11.2 deletion syndrome 10.4
46 glioblastoma multiforme 10.4
47 glioblastoma 10.4
48 microvascular complications of diabetes 3 10.4
49 microvascular complications of diabetes 4 10.4
50 microvascular complications of diabetes 6 10.4

Graphical network of the top 20 diseases related to Episodic Kinesigenic Dyskinesia 1:



Diseases related to Episodic Kinesigenic Dyskinesia 1

Symptoms & Phenotypes for Episodic Kinesigenic Dyskinesia 1

Human phenotypes related to Episodic Kinesigenic Dyskinesia 1:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002072
2 dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100660
3 athetosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002305
4 focal sensory seizure 32 frequent (33%) HP:0011157
5 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
6 writer's cramp 59 32 occasional (7.5%) Occasional (29-5%) HP:0002356
7 seizures 59 32 very rare (1%) Occasional (29-5%) HP:0001250
8 dystonia 59 Very frequent (99-80%)
9 abnormality of the face 32 HP:0000271
10 involuntary movements 59 Very frequent (99-80%)
11 paroxysmal dystonia 32 HP:0002268
12 orofacial dyskinesia 32 HP:0002310
13 paroxysmal choreoathetosis 32 HP:0007098
14 auras 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
orofacial dyskinesia

Neurologic Central Nervous System:
dystonia, episodic
choreoathetosis, episodic
dyskinesia, episodic
abnormal involuntary movements
infantile seizures, afebrile, with no neurologic sequelae (in 40% of patients)

Clinical features from OMIM:

128200

UMLS symptoms related to Episodic Kinesigenic Dyskinesia 1:


dystonia, dystonia, paroxysmal

MGI Mouse Phenotypes related to Episodic Kinesigenic Dyskinesia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.02 ABCC12 APPL1 GRIA1 PNKD SNAP25

Drugs & Therapeutics for Episodic Kinesigenic Dyskinesia 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study Recruiting NCT04023656

Search NIH Clinical Center for Episodic Kinesigenic Dyskinesia 1

Genetic Tests for Episodic Kinesigenic Dyskinesia 1

Genetic tests related to Episodic Kinesigenic Dyskinesia 1:

# Genetic test Affiliating Genes
1 Dystonia 10 29 PRRT2
2 Paroxysmal Kinesigenic Dyskinesia 29

Anatomical Context for Episodic Kinesigenic Dyskinesia 1

MalaCards organs/tissues related to Episodic Kinesigenic Dyskinesia 1:

41
Brain, Testes, Cortex, Skin, Cerebellum, Thalamus

Publications for Episodic Kinesigenic Dyskinesia 1

Articles related to Episodic Kinesigenic Dyskinesia 1:

(show top 50) (show all 261)
# Title Authors PMID Year
1
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 38 8 71
22744660 2012
2
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 38 8 71
22399141 2012
3
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 38 8 71
22101681 2011
4
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 8 71
22120146 2011
5
PRRT2-Associated Paroxysmal Movement Disorders 38 71
29334453 2018
6
PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. 38 8
23535490 2013
7
PRRT2 mutations are the major cause of benign familial infantile seizures. 38 71
22623405 2012
8
16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child. 38 8
19667324 2009
9
Familial Paroxysmal Kinesigenic Dyskinesia 38 71
20301633 2005
10
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. 38 8
12210861 2002
11
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. 38 8
10636137 2000
12
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 71
22243967 2012
13
EFNS guidelines on diagnosis and treatment of primary dystonias. 71
20482602 2011
14
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. 8
17387577 2007
15
Hereditary Dystonia Overview 71
20301334 2003
16
Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16. 8
12076558 2002
17
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. 8
10577923 1999
18
Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis. 8
10403218 1999
19
A family with an atonic variant of paroxysmal kinesigenic choreoathetosis and hypercalcitoninemia. 8
10091631 1999
20
Clinical and molecular genetics of primary dystonias. 8
10737119 1998
21
Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness. 8
7206405 1981
22
Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features. 8
718486 1978
23
Familial paroxysmal dystonia. 8
6066074 1967
24
Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. 8
6067487 1967
25
Sporadic and familial varieties of tonic seizures. 8
13928397 1963
26
Tics in Paroxysmal Kinesigenic Dyskinesia. 38
31392257 2019
27
Reply to: Tics in Paroxysmal Kinesigenic Dyskinesia. 38
31392258 2019
28
Paroxysmal and cognitive phenotypes in Prrt2 mutant mice. 38
30884140 2019
29
PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization. 38
30980674 2019
30
Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia. 38
30635245 2019
31
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. 38
31154286 2019
32
PRRT2-related phenotypes in patients with a 16p11.2 deletion. 38
30125676 2019
33
The experience of the multidisciplinary team in epilepsy management from a resource-limited country. 38
30868118 2019
34
Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation. 38
30501978 2019
35
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 38
31193310 2019
36
PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats. 38
30347267 2019
37
Paroxysmal Kinesigenic Dyskinesia Presented Following Concussion. 38
30563314 2019
38
Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation. 38
29984755 2018
39
[Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation]. 38
30392205 2018
40
16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability. 38
30307717 2018
41
The study of exercise tests in paroxysmal kinesigenic dyskinesia. 38
30293034 2018
42
Paroxysmal Dyskinesia in Children: from Genes to the Clinic. 38
30198221 2018
43
A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B. 38
30009426 2018
44
PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures. 38
29285950 2018
45
Phenotypes, genotypes, and the management of paroxysmal movement disorders. 38
29600549 2018
46
Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics. 38
29984260 2018
47
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity. 38
29554219 2018
48
Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients. 38
29356177 2018
49
CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus? 38
29454195 2018
50
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. 38
29294000 2018

Variations for Episodic Kinesigenic Dyskinesia 1

ClinVar genetic disease variations for Episodic Kinesigenic Dyskinesia 1:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRRT2 NM_145239.3(PRRT2): c.600_603TCAC[1] (p.Ser202fs) short repeat Pathogenic rs1064793851 16:29824979-29824982 16:29813658-29813661
2 PRRT2 NM_145239.3(PRRT2): c.959C> T (p.Ala320Val) single nucleotide variant Pathogenic rs1301400509 16:29825733-29825733 16:29814412-29814412
3 PRRT2 NC_000016.9: g.(?_29824356)_(29825979_?)del deletion Pathogenic 16:29824356-29825979 16:29813035-29814658
4 PRRT2 NM_145239.3(PRRT2): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs77838305 16:29825024-29825024 16:29813703-29813703
5 PRRT2 NM_145239.3(PRRT2): c.535_538del (p.Gln179fs) deletion Pathogenic rs1555502708 16:29824910-29824913 16:29813589-29813592
6 PRRT2 PRRT2, 1-BP DUP, 649C duplication Pathogenic
7 PRRT2 NM_145239.3(PRRT2): c.510_513TCTG[1] (p.Ser172fs) short repeat Pathogenic rs730882065 16:29824889-29824892 16:29813568-29813571
8 PRRT2 NM_145239.3(PRRT2): c.972del (p.Val325fs) deletion Pathogenic rs730882066 16:29825746-29825746 16:29814425-29814425
9 PRRT2 NM_145239.3(PRRT2): c.629dup (p.Ala211fs) duplication Pathogenic rs730882067 16:29825004-29825004 16:29813683-29813683
10 PRRT2 NM_145239.3(PRRT2): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs387907126 16:29825093-29825093 16:29813772-29813772
11 PRRT2 NM_145239.3(PRRT2): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs387907127 16:29824862-29824862 16:29813541-29813541
12 PRRT2 NM_145239.3(PRRT2): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs387907128 16:29825171-29825171 16:29813850-29813850
13 PRRT2 NM_145239.3(PRRT2): c.649del (p.Arg217fs) deletion Pathogenic rs587778771 16:29825024-29825024 16:29813703-29813703
14 PRRT2 NM_145239.3(PRRT2): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs397514579 16:29825123-29825123 16:29813802-29813802
15 PRRT2 NM_145239.3(PRRT2): c.510dup (p.Leu171fs) duplication Pathogenic rs397515576 16:29824885-29824885 16:29813564-29813564
16 PRRT2 NC_000016.9: g.(?_29824376)_(29916286_?)del deletion Pathogenic 16:29824376-29916286 16:29813055-29904965
17 PRRT2 NM_145239.3(PRRT2): c.661C> T (p.Gln221Ter) single nucleotide variant Pathogenic 16:29825036-29825036 16:29813715-29813715
18 PRRT2 NM_145239.3(PRRT2): c.106del (p.Gln36fs) deletion Pathogenic 16:29824481-29824481 16:29813160-29813160
19 PRRT2 NM_145239.3(PRRT2): c.697_698del (p.Ser233fs) deletion Pathogenic 16:29825072-29825073 16:29813751-29813752
20 PRRT2 NM_145239.3(PRRT2): c.742dup (p.Ser248fs) duplication Pathogenic 16:29825117-29825117 16:29813796-29813796
21 PRRT2 NM_145239.3(PRRT2): c.843G> A (p.Trp281Ter) single nucleotide variant Pathogenic 16:29825218-29825218 16:29813897-29813897
22 PRRT2 NM_145239.3(PRRT2): c.848_863del (p.Val283fs) deletion Pathogenic 16:29825223-29825238 16:29813902-29813917
23 PRRT2 NM_145239.3(PRRT2): c.303del (p.Glu102fs) deletion Pathogenic 16:29824678-29824678 16:29813357-29813357
24 PRRT2 NC_000016.9: g.(?_29824366)_(29825969_?)del deletion Pathogenic 16:29824366-29825969 16:29813045-29814648
25 PRRT2 NM_145239.3(PRRT2): c.649dup (p.Arg217fs) duplication Pathogenic/Likely pathogenic rs587778771 16:29825024-29825024 16:29813703-29813703
26 PRRT2 NM_145239.3(PRRT2): c.972_975del (p.Val325fs) deletion Likely pathogenic rs1555502908 16:29825746-29825749 16:29814425-29814428
27 PRRT2 NM_145239.3(PRRT2): c.971del (p.Gly324fs) deletion Likely pathogenic rs796052941 16:29825745-29825745 16:29814424-29814424
28 PRRT2 NM_145239.3(PRRT2): c.304del (p.Glu102fs) deletion Likely pathogenic 16:29824679-29824679 16:29813358-29813358
29 PRRT2 NM_145239.3(PRRT2): c.880-1G> T single nucleotide variant Likely pathogenic 16:29825653-29825653 16:29814332-29814332
30 PRRT2 NM_145239.3(PRRT2): c.640G> C (p.Ala214Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs745594874 16:29825015-29825015 16:29813694-29813694
31 PRRT2 NM_145239.3(PRRT2): c.755C> G (p.Ala252Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs1053144630 16:29825130-29825130 16:29813809-29813809
32 PRRT2 NM_145239.3(PRRT2): c.67G> A (p.Glu23Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140383655 16:29824442-29824442 16:29813121-29813121
33 PRRT2 NM_145239.3(PRRT2): c.1013T> C (p.Val338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144540943 16:29825949-29825949 16:29814628-29814628
34 PRRT2 NM_145239.3(PRRT2): c.352G> A (p.Ala118Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201636905 16:29824727-29824727 16:29813406-29813406
35 PRRT2 NM_145239.3(PRRT2): c.647C> G (p.Pro216Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs76335820 16:29825022-29825022 16:29813701-29813701
36 PRRT2 NM_145239.3(PRRT2): c.879+6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201887920 16:29825260-29825260 16:29813939-29813939
37 PRRT2 NM_145239.3(PRRT2): c.66C> T (p.Gly22=) single nucleotide variant Conflicting interpretations of pathogenicity rs775756146 16:29824441-29824441 16:29813120-29813120
38 PRRT2 NM_145239.3(PRRT2): c.922C> T (p.Arg308Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs932713001 16:29825696-29825696 16:29814375-29814375
39 PRRT2 NM_145239.3(PRRT2): c.734G> A (p.Arg245His) single nucleotide variant Uncertain significance rs754897123 16:29825109-29825109 16:29813788-29813788
40 PRRT2 NM_145239.3(PRRT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs758787026 16:29824668-29824668 16:29813347-29813347
41 PRRT2 NC_000016.9: g.(?_29824356)_(29825979_?)dup duplication Uncertain significance 16:29824356-29825979 :0-0
42 PRRT2 NM_145239.3(PRRT2): c.368G> A (p.Gly123Glu) single nucleotide variant Uncertain significance rs758798693 16:29824743-29824743 16:29813422-29813422
43 PRRT2 NM_145239.3(PRRT2): c.85G> A (p.Glu29Lys) single nucleotide variant Uncertain significance rs1555502574 16:29824460-29824460 16:29813139-29813139
44 PRRT2 NM_145239.3(PRRT2): c.431C> T (p.Pro144Leu) single nucleotide variant Uncertain significance rs1317648011 16:29824806-29824806 16:29813485-29813485
45 PRRT2 NM_145239.3(PRRT2): c.455C> A (p.Pro152His) single nucleotide variant Uncertain significance rs760278435 16:29824830-29824830 16:29813509-29813509
46 PRRT2 NM_145239.3(PRRT2): c.1011C> T (p.Gly337=) single nucleotide variant Uncertain significance rs745970212 16:29825785-29825785 16:29814464-29814464
47 PRRT2 NC_000016.9: g.(?_29824311)_(29827202_?)dup duplication Uncertain significance 16:29824311-29827202 16:29812990-29815881
48 PRRT2 NM_145239.3(PRRT2): c.635A> G (p.Asn212Ser) single nucleotide variant Uncertain significance rs779020826 16:29825010-29825010 16:29813689-29813689
49 PRRT2 NM_145239.3(PRRT2): c.923G> A (p.Arg308His) single nucleotide variant Uncertain significance rs989894169 16:29825697-29825697 16:29814376-29814376
50 PRRT2 NM_145239.3(PRRT2): c.932G> C (p.Arg311Pro) single nucleotide variant Uncertain significance rs866838115 16:29825706-29825706 16:29814385-29814385

UniProtKB/Swiss-Prot genetic disease variations for Episodic Kinesigenic Dyskinesia 1:

74
# Symbol AA change Variation ID SNP ID
1 PRRT2 p.Arg266Trp VAR_067322 rs387907128
2 PRRT2 p.Trp281Arg VAR_067323
3 PRRT2 p.Ala287Thr VAR_067324
4 PRRT2 p.Gly305Arg VAR_067325 rs767799831
5 PRRT2 p.Arg308Cys VAR_067326 rs932713001

Copy number variations for Episodic Kinesigenic Dyskinesia 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 100036 16 29560500 30104842 Microdeletions DOC2A Paroxysmal kinesigenic dyskinesia
2 100037 16 29560500 30104842 Microdeletions KCTD13 Paroxysmal kinesigenic dyskinesia
3 100038 7 65731379 65743252 Microdeletions KCTD7 Paroxysmal kinesigenic dyskinesia
4 100039 16 29560500 30104842 Microdeletions MAPK Paroxysmal kinesigenic dyskinesia
5 100040 16 29560500 30104842 Microdeletions MAPK3 Paroxysmal kinesigenic dyskinesia
6 100041 16 29560500 30104842 Microdeletions SEZ6L2 Paroxysmal kinesigenic dyskinesia

Expression for Episodic Kinesigenic Dyskinesia 1

Search GEO for disease gene expression data for Episodic Kinesigenic Dyskinesia 1.

Pathways for Episodic Kinesigenic Dyskinesia 1

Pathways related to Episodic Kinesigenic Dyskinesia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 PRKD1 KCNA1 GRIA1

GO Terms for Episodic Kinesigenic Dyskinesia 1

Cellular components related to Episodic Kinesigenic Dyskinesia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.63 SNAP25 PRRT2 KCNA1
2 cell junction GO:0030054 9.62 SNAP25 PRRT2 KCNA1 GRIA1
3 glutamatergic synapse GO:0098978 9.61 SNAP25 KCNA1 GRIA1
4 synapse GO:0045202 9.56 SNAP25 PRRT2 KCNA1 GRIA1
5 axon terminus GO:0043679 9.4 PRRT2 KCNA1
6 somatodendritic compartment GO:0036477 9.16 SNAP25 GRIA1
7 synaptic vesicle GO:0008021 9.13 SNAP25 PRRT2 GRIA1
8 presynaptic membrane GO:0042734 8.8 SNAP25 PRRT2 KCNA1
9 membrane GO:0016020 10.02 SNAP25 PRRT2 PRKD1 PNKD KCNA1 GRIA1

Biological processes related to Episodic Kinesigenic Dyskinesia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.33 SNAP25 KCNA1 GRIA1
2 regulation of postsynaptic membrane potential GO:0060078 9.26 KCNA1 GRIA1
3 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 8.96 SNAP25 PRRT2
4 neuromuscular process controlling posture GO:0050884 8.62 PRRT2 PNKD

Molecular functions related to Episodic Kinesigenic Dyskinesia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 9.16 SNAP25 KCNA1
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.96 ABCC12 ABCC11
3 syntaxin-1 binding GO:0017075 8.62 SNAP25 PRRT2

Sources for Episodic Kinesigenic Dyskinesia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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69 SNOMED-CT via HPO
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