EKD1
MCID: EPS030
MIFTS: 54

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 56 12 52 73 29 13 6 15
Paroxysmal Kinesigenic Dyskinesia 56 52 25 58 73 29 6
Paroxysmal Kinesigenic Choreoathetosis 56 12 52 25 73 71
Dystonia 10 56 52 25 73
Familial Paroxysmal Kinesigenic Dyskinesia 52 25 58
Paroxysmal Kinesigenic Choreathetosis 52 58
Familial Paroxysmal Dystonia 25 73
Familial Pkd 52 58
Dyt10 56 73
Ekd1 56 73
Pkc 56 73
Pkd 56 73
Paroxysmal Kinesigenic Choreoathetosis; Pkc 56
Paroxysmal Kinesigenic Dyskinesia; Pkd 56
Episodic Kinesigenic Dyskinesia 25
Dystonia, Familial Paroxysmal 56
Dystonia 10; Dyt10 56
Dystonia, Type 10 39
Dyt-Prrt2 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
episodic kinesigenic dyskinesia 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090053
OMIM 56 128200
OMIM Phenotypic Series 56 PS128100 PS128200
MeSH 43 D004421
ICD10 32 G24.8
ICD10 via Orphanet 33 G24.8
UMLS via Orphanet 72 C1868682
Orphanet 58 ORPHA98809
UMLS 71 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 reflex epilepsy and paroxysmal dyskinesia, 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 are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include brain, cortex and testes, and related phenotypes are dyskinesia and chorea

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 : 52 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 : 56 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 : 73 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 616)
# Related Disease Score Top Affiliating Genes
1 reflex epilepsy 31.5 PRRT2 PNKD
2 paroxysmal dyskinesia 31.1 PRRT2 PNKD
3 familial paroxysmal nonkinesigenic dyskinesia 30.9 PRRT2 PNKD
4 episodic kinesigenic dyskinesia 2 30.9 SLC9A5 PRRT2 PNKD EKD2
5 generalized epilepsy with febrile seizures plus 30.5 PRRT2 KCNQ2 KCNA1
6 benign familial infantile epilepsy 30.5 SNAP25 PRRT2 PRKD1 PNKD KCNQ2
7 paroxysmal nonkinesigenic dyskinesia 1 30.5 PRRT2 PNKD
8 epilepsy 29.8 SNAP25 PRRT2 KCNQ2 KCNA1 CACNG3 CACNB4
9 episodic ataxia 29.8 SNAP25 PRRT2 PNKD KCNQ2 KCNA1 CACNB4
10 migraine with or without aura 1 28.5 SNAP25 PRRT2 PNKD KCNQ2 KCNA1 CACNB4
11 polycystic kidney disease 12.2
12 polycystic kidney disease 4 with or without polycystic liver disease 12.0
13 clcn2-related leukoencephalopathy 11.9
14 cystic kidney disease 11.9
15 immunodeficiency 26 with or without neurologic abnormalities 11.7
16 paroxysmal exertion-induced dyskinesia 11.7
17 spinocerebellar ataxia 14 11.6
18 seizures, benign familial infantile, 5 11.6
19 polycystic kidney disease 2 with or without polycystic liver disease 11.5
20 polycystic kidney disease 3 with or without polycystic liver disease 11.4
21 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.3
22 polycystic liver disease 11.3
23 convulsions, familial infantile, with paroxysmal choreoathetosis 11.3
24 seizures, benign familial infantile, 2 11.3
25 pyruvate kinase deficiency of red cells 11.2
26 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.2
27 congenital hepatic fibrosis 11.2
28 autosomal dominant polycystic kidney disease 10.8
29 paroxysmal choreoathetosis 10.7
30 hypoparathyroidism 10.6
31 dystonia 10.6
32 athetosis 10.5
33 pertussis 10.5
34 febrile seizures 10.5
35 infantile epilepsy syndrome 10.5
36 multiple sclerosis 10.5
37 neuroblastoma 10.5
38 glioma 10.4
39 myotonia congenita 10.4
40 myotonia 10.4
41 glial tumor 10.4
42 hemidystonia 10.4
43 rare movement disorder 10.4
44 autism 10.4
45 chromosome 16p11.2 deletion syndrome 10.4
46 prrt2-associated paroxysmal movement disorders 10.4
47 microvascular complications of diabetes 3 10.4
48 microvascular complications of diabetes 4 10.4
49 microvascular complications of diabetes 6 10.4
50 microvascular complications of diabetes 7 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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyskinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100660
2 chorea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002072
3 athetosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002305
4 focal sensory seizure 58 31 frequent (33%) Frequent (79-30%) HP:0011157
5 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
6 writer's cramp 58 31 occasional (7.5%) Occasional (29-5%) HP:0002356
7 seizure 31 very rare (1%) HP:0001250
8 seizures 58 Occasional (29-5%)
9 abnormality of the face 31 HP:0000271
10 involuntary movements 58 Very frequent (99-80%)
11 dystonia 58 Very frequent (99-80%)
12 orofacial dyskinesia 31 HP:0002310
13 paroxysmal dystonia 31 HP:0002268
14 paroxysmal choreoathetosis 31 HP:0007098

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.36 ABCC5 APPL1 CACNB4 CACNG3 KCNA1 KCNQ2

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 Episodic Kinesigenic Dyskinesia 1 29 PRRT2
2 Paroxysmal Kinesigenic Dyskinesia 29

Anatomical Context for Episodic Kinesigenic Dyskinesia 1

MalaCards organs/tissues related to Episodic Kinesigenic Dyskinesia 1:

40
Brain, Cortex, Testes, Cerebellum, Skin, Thalamus

Publications for Episodic Kinesigenic Dyskinesia 1

Articles related to Episodic Kinesigenic Dyskinesia 1:

(show top 50) (show all 281)
# Title Authors PMID Year
1
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 56 61 6
22744660 2012
2
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 61 6 56
22399141 2012
3
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 61 56 6
22101681 2011
4
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 56 6
22120146 2011
5
PRRT2-Associated Paroxysmal Movement Disorders 6 61
29334453 2018
6
PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. 61 56
23535490 2013
7
PRRT2 mutations are the major cause of benign familial infantile seizures. 6 61
22623405 2012
8
16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child. 61 56
19667324 2009
9
Familial Paroxysmal Kinesigenic Dyskinesia – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301633 2005
10
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. 56 61
12210861 2002
11
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. 61 56
10636137 2000
12
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 6
22243967 2012
13
EFNS guidelines on diagnosis and treatment of primary dystonias. 6
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. 56
17387577 2007
15
Hereditary Dystonia Overview 6
20301334 2003
16
Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16. 56
12076558 2002
17
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. 56
10577923 1999
18
Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis. 56
10403218 1999
19
A family with an atonic variant of paroxysmal kinesigenic choreoathetosis and hypercalcitoninemia. 56
10091631 1999
20
Clinical and molecular genetics of primary dystonias. 56
10737119 1998
21
Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness. 56
7206405 1981
22
Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features. 56
718486 1978
23
Familial paroxysmal dystonia. 56
6066074 1967
24
Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. 56
6067487 1967
25
Sporadic and familial varieties of tonic seizures. 56
13928397 1963
26
Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports. 61
32346475 2020
27
Reply: Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia. 61
32298417 2020
28
Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia. 61
32303062 2020
29
Lacosamide for children with paroxysmal kinesigenic dyskinesia. 61
32430160 2020
30
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China. 61
32392383 2020
31
Corrigendum to "PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia". 61
32169279 2020
32
Treatment of Paroxysmal Dyskinesia. 61
32279719 2020
33
Different experiences of two PRRT2-associated self-limited familial infantile epilepsy. 61
32246320 2020
34
Altered topological organization of functional brain networks in drug-naive patients with paroxysmal kinesigenic dyskinesia. 61
32058179 2020
35
PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia. 61
31785815 2020
36
A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion. 61
32509037 2020
37
Activity-dependent cleavage of dyskinesia-related proline-rich transmembrane protein 2 (PRRT2) by calpain in mouse primary cortical neurons. 61
31914621 2020
38
Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses. 61
31618668 2020
39
[Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia]. 61
31922585 2020
40
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations. 61
32055599 2020
41
Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China. 61
31471687 2019
42
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? 61
31801583 2019
43
Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine. 61
31722684 2019
44
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. 61
31154286 2019
45
Reply to: Tics in Paroxysmal Kinesigenic Dyskinesia. 61
31392258 2019
46
Tics in Paroxysmal Kinesigenic Dyskinesia. 61
31392257 2019
47
Paroxysmal and cognitive phenotypes in Prrt2 mutant mice. 61
30884140 2019
48
PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization. 61
30980674 2019
49
Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia. 61
30635245 2019
50
PRRT2-related phenotypes in patients with a 16p11.2 deletion. 61
30125676 2019

Variations for Episodic Kinesigenic Dyskinesia 1

ClinVar genetic disease variations for Episodic Kinesigenic Dyskinesia 1:

6 (show top 50) (show all 128) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRRT2 NM_145239.3(PRRT2):c.600_603TCAC[1] (p.Ser202fs)short repeat Pathogenic 419406 rs1064793851 16:29824974-29824977 16:29813653-29813656
2 PRRT2 NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)SNV Pathogenic 440911 rs1301400509 16:29825733-29825733 16:29814412-29814412
3 PRRT2 NC_000016.10:g.(?_29813035)_(29814658_?)deldeletion Pathogenic 468611 16:29824356-29825979 16:29813035-29814658
4 PRRT2 NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)SNV Pathogenic 468617 rs77838305 16:29825024-29825024 16:29813703-29813703
5 PRRT2 NM_145239.3(PRRT2):c.535_538del (p.Gln179fs)deletion Pathogenic 522556 rs1555502708 16:29824907-29824910 16:29813586-29813589
6 PRRT2 NC_000016.10:g.(?_29813055)_(29904965_?)deldeletion Pathogenic 584215 16:29824376-29916286 16:29813055-29904965
7 PRRT2 NM_145239.3(PRRT2):c.661C>T (p.Gln221Ter)SNV Pathogenic 576805 rs1567379819 16:29825036-29825036 16:29813715-29813715
8 PRRT2 NM_145239.3(PRRT2):c.106del (p.Gln36fs)deletion Pathogenic 662320 16:29824478-29824478 16:29813157-29813157
9 PRRT2 NM_145239.3(PRRT2):c.697_698del (p.Ser233fs)deletion Pathogenic 659554 16:29825072-29825073 16:29813751-29813752
10 PRRT2 NM_145239.3(PRRT2):c.742dup (p.Ser248fs)duplication Pathogenic 649461 16:29825116-29825117 16:29813795-29813796
11 PRRT2 NM_145239.3(PRRT2):c.843G>A (p.Trp281Ter)SNV Pathogenic 665748 16:29825218-29825218 16:29813897-29813897
12 PRRT2 NM_145239.3(PRRT2):c.848_863del (p.Val283fs)deletion Pathogenic 663069 16:29825223-29825238 16:29813902-29813917
13 PRRT2 NM_145239.3(PRRT2):c.303del (p.Glu102fs)deletion Pathogenic 640387 16:29824675-29824675 16:29813354-29813354
14 PRRT2 NC_000016.10:g.(?_29813045)_(29814648_?)deldeletion Pathogenic 645873 16:29824366-29825969 16:29813045-29814648
15 PRRT2 NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs)insertion Pathogenic 853525 16:29824657-29824658 16:29813336-29813337
16 PRRT2 NM_145239.3(PRRT2):c.510_513TCTG[1] (p.Ser172fs)short repeat Pathogenic 31169 rs730882065 16:29824885-29824888 16:29813564-29813567
17 PRRT2 NM_145239.3(PRRT2):c.972del (p.Val325fs)deletion Pathogenic 31170 rs730882066 16:29825746-29825746 16:29814425-29814425
18 PRRT2 NM_145239.3(PRRT2):c.629dup (p.Ala211fs)duplication Pathogenic 31171 rs730882067 16:29824997-29824998 16:29813676-29813677
19 PRRT2 NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn)SNV Pathogenic 31172 rs387907125 16:29825724-29825724 16:29814403-29814403
20 PRRT2 NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)SNV Pathogenic 31174 rs387907126 16:29825093-29825093 16:29813772-29813772
21 PRRT2 NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter)SNV Pathogenic 31176 rs387907127 16:29824862-29824862 16:29813541-29813541
22 PRRT2 NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)SNV Pathogenic 31177 rs387907128 16:29825171-29825171 16:29813850-29813850
23 PRRT2 NM_145239.3(PRRT2):c.776del (p.Gly259fs)deletion Pathogenic 835335 16:29825146-29825146 16:29813825-29813825
24 PRRT2 NM_145239.3(PRRT2):c.47_48AG[1] (p.Pro18fs)short repeat Pathogenic 813794 16:29824421-29824422 16:29813100-29813101
25 PRRT2 NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)SNV Pathogenic 39756 rs397514579 16:29825123-29825123 16:29813802-29813802
26 PRRT2 NM_145239.3(PRRT2):c.510dup (p.Leu171fs)duplication Pathogenic 65756 rs397515576 16:29824883-29824884 16:29813562-29813563
27 PRRT2 NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)deletion Pathogenic 280888 rs886042013 16:29824699-29824700 16:29813378-29813379
28 PRRT2 NM_145239.3(PRRT2):c.649dup (p.Arg217fs)duplication Pathogenic/Likely pathogenic 65758 rs587778771 16:29825015-29825016 16:29813694-29813695
29 PRRT2 NM_145239.3(PRRT2):c.649del (p.Arg217fs)deletion Pathogenic/Likely pathogenic 39752 rs587778771 16:29825016-29825016 16:29813695-29813695
30 PRRT2 NM_145239.3(PRRT2):c.971del (p.Gly324fs)deletion Likely pathogenic 206696 rs796052941 16:29825740-29825740 16:29814419-29814419
31 PRRT2 NM_145239.3(PRRT2):c.880-1G>TSNV Likely pathogenic 649036 16:29825653-29825653 16:29814332-29814332
32 PRRT2 NM_145239.3(PRRT2):c.304del (p.Glu102fs)deletion Likely pathogenic 626000 rs1567379016 16:29824679-29824679 16:29813358-29813358
33 PRRT2 NM_145239.3(PRRT2):c.972_975del (p.Val325fs)deletion Likely pathogenic 536484 rs1555502908 16:29825746-29825749 16:29814425-29814428
34 PRRT2 NM_145239.3(PRRT2):c.879+6C>ASNV Conflicting interpretations of pathogenicity 468621 rs201887920 16:29825260-29825260 16:29813939-29813939
35 PRRT2 NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly)SNV Conflicting interpretations of pathogenicity 506531 rs1053144630 16:29825130-29825130 16:29813809-29813809
36 PRRT2 NM_145239.3(PRRT2):c.580G>A (p.Glu194Lys)SNV Conflicting interpretations of pathogenicity 420877 rs139516010 16:29824955-29824955 16:29813634-29813634
37 PRRT2 NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys)SNV Conflicting interpretations of pathogenicity 449322 rs932713001 16:29825696-29825696 16:29814375-29814375
38 PRRT2 NM_145239.3(PRRT2):c.1011C>T (p.Gly337=)SNV Conflicting interpretations of pathogenicity 372477 rs745970212 16:29825785-29825785 16:29814464-29814464
39 PRRT2 NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala)SNV Conflicting interpretations of pathogenicity 197379 rs144540943 16:29825949-29825949 16:29814628-29814628
40 PRRT2 NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr)SNV Conflicting interpretations of pathogenicity 206680 rs201636905 16:29824727-29824727 16:29813406-29813406
41 PRRT2 NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)SNV Conflicting interpretations of pathogenicity 206687 rs745594874 16:29825015-29825015 16:29813694-29813694
42 PRRT2 NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)SNV Conflicting interpretations of pathogenicity 96494 rs76335820 16:29825022-29825022 16:29813701-29813701
43 PRRT2 NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)SNV Conflicting interpretations of pathogenicity 130039 rs140383655 16:29824442-29824442 16:29813121-29813121
44 PRRT2 NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)SNV Conflicting interpretations of pathogenicity 65757 rs76335820 16:29825022-29825022 16:29813701-29813701
45 PRRT2 NM_145239.3(PRRT2):c.865G>A (p.Ala289Thr)SNV Uncertain significance 847965 16:29825240-29825240 16:29813919-29813919
46 PRRT2 NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp)SNV Uncertain significance 846701 16:29825657-29825657 16:29814336-29814336
47 PRRT2 NM_145239.3(PRRT2):c.907G>A (p.Val303Met)SNV Uncertain significance 838983 16:29825681-29825681 16:29814360-29814360
48 PRRT2 NM_145239.3(PRRT2):c.943C>T (p.Leu315Phe)SNV Uncertain significance 843849 16:29825717-29825717 16:29814396-29814396
49 PRRT2 NM_145239.3(PRRT2):c.879+4A>CSNV Uncertain significance 837496 16:29825258-29825258 16:29813937-29813937
50 PRRT2 NM_145239.3(PRRT2):c.1012+58_1013deldeletion Uncertain significance 861392 16:29825843-29825948 16:29814522-29814627

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

73
# 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 Chromosome 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
Show member pathways
12.41 SNAP25 KCNQ2 KCNA1 CACNG3 CACNB4
2 11.38 PRKD1 KCNQ2 KCNA1 CACNG3 CACNB4
3 10.32 ABCC6 ABCC2

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 glutamatergic synapse GO:0098978 9.62 SNAP25 PRRT2 KCNA1 CACNG3
2 plasma membrane GO:0005886 9.44 SNAP25 SLC9A5 PRRT2 PRKD1 KCNQ2 KCNA1
3 voltage-gated potassium channel complex GO:0008076 9.33 SNAP25 KCNQ2 KCNA1
4 somatodendritic compartment GO:0036477 9.26 SNAP25 CACNG3
5 presynaptic membrane GO:0042734 9.13 SNAP25 PRRT2 KCNA1

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 SLC9A5 KCNQ2 KCNA1 CACNG3 CACNB4
2 chemical synaptic transmission GO:0007268 9.71 SNAP25 KCNQ2 KCNA1 CACNB4
3 regulation of ion transmembrane transport GO:0034765 9.56 KCNQ2 KCNA1 CACNG3 CACNB4
4 potassium ion transmembrane transport GO:0071805 9.46 SNAP25 SLC9A5 KCNQ2 KCNA1
5 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.43 SNAP25 PRRT2
6 neuromuscular process controlling posture GO:0050884 9.37 PRRT2 PNKD
7 neurotransmitter receptor internalization GO:0099590 9.32 SNAP25 CACNG3
8 transmembrane transport GO:0055085 9.23 SLC9A5 KCNQ2 KCNA1 ABCC6 ABCC5 ABCC2
9 organic anion transport GO:0015711 9.13 ABCC5 ABCC2 ABCC11

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.56 KCNQ2 KCNA1 CACNG3 CACNB4
2 ATPase activity GO:0016887 9.55 ABCC6 ABCC5 ABCC2 ABCC12 ABCC11
3 voltage-gated potassium channel activity GO:0005249 9.5 SNAP25 KCNQ2 KCNA1
4 syntaxin-1 binding GO:0017075 9.4 SNAP25 PRRT2
5 xenobiotic transmembrane transporter activity GO:0042910 9.37 ABCC5 ABCC2
6 organic anion transmembrane transporter activity GO:0008514 9.13 ABCC5 ABCC2 ABCC11
7 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCC6 ABCC5 ABCC2 ABCC12 ABCC11

Sources for Episodic Kinesigenic Dyskinesia 1

3 CDC
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