EKD1
MCID: EPS030
MIFTS: 50

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 75 13 15
Paroxysmal Kinesigenic Choreoathetosis 57 12 53 25 75 73
Paroxysmal Kinesigenic Dyskinesia 57 53 25 59 75 29
Dystonia 10 57 53 25 75 29 6
Familial Paroxysmal Kinesigenic Dyskinesia 53 25 59
Paroxysmal Kinesigenic Choreathetosis 53 59
Familial Paroxysmal Dystonia 25 75
Familial Pkd 53 59
Dyt10 57 75
Ekd1 57 75
Pkc 57 75
Pkd 57 75
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
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 128200
Disease Ontology 12 DOID:0090053
ICD10 33 G24.8
Orphanet 59 ORPHA98809
UMLS via Orphanet 74 C1868682
ICD10 via Orphanet 34 G24.8
MedGen 42 C1868682
MeSH 44 D004421
UMLS 73 C1868682

Summaries for Episodic Kinesigenic Dyskinesia 1

NIH Rare Diseases : 53 Paroxysmal kinesigenic choreoathetosisĀ 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.

MalaCards based summary : Episodic Kinesigenic Dyskinesia 1, also known as paroxysmal kinesigenic choreoathetosis, is related to episodic kinesigenic dyskinesia 2 and paroxysmal choreoathetosis, 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 lung, kidney and liver, and related phenotypes are seizures and chorea

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

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.

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 : 75 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 240)
# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 2 33.8 PRRT2 PNKD EKD2
2 paroxysmal choreoathetosis 30.5 PRRT2 PNKD
3 benign familial infantile epilepsy 30.3 PRRT2 PRKD1
4 episodic ataxia 30.2 PRRT2 KCNA1
5 polycystic kidney disease 12.0
6 polycystic kidney disease 4 with or without polycystic liver disease 11.6
7 paroxysmal exertion-induced dyskinesia 11.5
8 seizures, benign familial infantile, 5 11.4
9 autosomal dominant polycystic kidney disease 11.4
10 cystic kidney disease 11.4
11 immunodeficiency 26 with or without neurologic abnormalities 11.3
12 polycystic kidney disease 3 with or without polycystic liver disease 11.2
13 polycystic liver disease 11.1
14 convulsions, familial infantile, with paroxysmal choreoathetosis 11.1
15 seizures, benign familial infantile, 2 11.1
16 spinocerebellar ataxia 14 11.1
17 pyruvate kinase deficiency of red cells 11.0
18 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.0
19 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.0
20 polycystic kidney disease 2 with or without polycystic liver disease 11.0
21 hypoparathyroidism 10.5
22 epilepsy 10.5
23 multiple sclerosis 10.5
24 gilles de la tourette syndrome 10.3
25 calcinosis 10.3
26 myotonia congenita 10.3
27 myotonia 10.3
28 seizure disorder 10.3
29 melanoma 10.3
30 glioma 10.3
31 leukemia 10.3
32 myxozoa 10.2
33 paroxysmal nonkinesigenic dyskinesia 1 10.2
34 muscular dystrophy, becker type 10.2
35 reflex epilepsy 10.2
36 myelitis 10.2
37 hyperthyroidism 10.2
38 muscular dystrophy 10.2
39 arachnoid cysts 10.2
40 neuroblastoma 10.2
41 breast cancer 10.2
42 lung cancer 10.2
43 wilson disease 10.2
44 anxiety 10.2
45 alacrima, achalasia, and mental retardation syndrome 10.2
46 basal ganglia calcification 10.2
47 tic disorder 10.2
48 pseudohypoparathyroidism 10.2
49 central pontine myelinolysis 10.2
50 acute disseminated encephalomyelitis 10.2

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

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

Human phenotypes related to Episodic Kinesigenic Dyskinesia 1:

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

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 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

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
Lung, Kidney, Liver, Bone, Colon, B Cells, Myeloid

Publications for Episodic Kinesigenic Dyskinesia 1

Articles related to Episodic Kinesigenic Dyskinesia 1:

(show top 50) (show all 71)
# Title Authors Year
1
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. ( 22131361 )
2012
2
Symptomatic paroxysmal kinesigenic choreoathetosis as primary manifestation of multiple sclerosis. ( 21805257 )
2012
3
Pregabalin resolves refractory aparathyroid paroxysmal kinesigenic choreoathetosis. ( 22805232 )
2012
4
The thalamic ultrastructural abnormalities in paroxysmal kinesigenic choreoathetosis: a diffusion tensor imaging study. ( 20012544 )
2010
5
Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families. ( 20158512 )
2010
6
Hyperactive putamen in patients with paroxysmal kinesigenic choreoathetosis: a resting-state functional magnetic resonance imaging study. ( 20629125 )
2010
7
Clinical characteristics of paroxysmal kinesigenic choreoathetosis: diagnosis, treatment and prognosis. ( 19224177 )
2009
8
Localization and mutation detection for paroxysmal kinesigenic choreoathetosis. ( 17952630 )
2008
9
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. ( 17387577 )
2007
10
Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. ( 16901678 )
2006
11
Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis. ( 15948007 )
2005
12
Topiramate therapy for paroxysmal kinesigenic choreoathetosis. ( 15390133 )
2005
13
Clinical manifestation and carbamazepine treatment of patients with paroxysmal kinesigenic choreoathetosis. ( 16231560 )
2005
14
[Late-onset of idiopathic paroxysmal kinesigenic choreoathetosis: a case report]. ( 15293760 )
2004
15
Effective treatment with oxcarbazepine in paroxysmal kinesigenic choreoathetosis. ( 15163097 )
2004
16
Preprogramming motor dysfunction in paroxysmal kinesigenic choreoathetosis. ( 12760411 )
2003
17
Paroxysmal kinesigenic choreoathetosis because of cryptogenic myelitis. Remission with carbamazepine and the pathogenetic role of altered sodium channels. ( 12220384 )
2002
18
[Ictal SPECT and paired stimulation SEP recovery curve in a patient with paroxysmal kinesigenic choreoathetosis]. ( 12440098 )
2002
19
The relationship between paroxysmal kinesigenic choreoathetosis and epilepsy. ( 11930271 )
2002
20
Idiopathic paroxysmal kinesigenic choreoathetosis: precipitation of attacks by vestibular stimulation. ( 12383430 )
2002
21
Regression of ventral striatum hypometabolism after calcium/calcitriol therapy in paroxysmal kinesigenic choreoathetosis due to idiopathic primary hypoparathyroidism. ( 11606688 )
2001
22
Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis. ( 11301226 )
2001
23
[A patient presented with atypical paroxysmal kinesigenic choreoathetosis and Becker muscular dystrophy]. ( 10835941 )
2000
24
Effectiveness of lamotrigine in children with paroxysmal kinesigenic choreoathetosis. ( 11085299 )
2000
25
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. ( 11004121 )
2000
26
Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism. ( 11102731 )
2000
27
Use of lamotrigine to treat paroxysmal kinesigenic choreoathetosis. ( 10877627 )
2000
28
Paroxysmal kinesigenic choreoathetosis as a presenting symptom of multiple sclerosis. ( 10929284 )
2000
29
Oxcarbazepine therapy in paroxysmal kinesigenic choreoathetosis. ( 10987326 )
2000
30
Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis. ( 11102728 )
2000
31
Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis. ( 10403218 )
1999
32
Paroxysmal kinesigenic choreoathetosis: a report of 26 patients. ( 10195407 )
1999
33
Paroxysmal kinesigenic choreoathetosis associated with frontotemporal arachnoid cyst--case report. ( 10193153 )
1999
34
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. ( 10577923 )
1999
35
A family with an atonic variant of paroxysmal kinesigenic choreoathetosis and hypercalcitoninemia. ( 10091631 )
1999
36
[Eleven cases of paroxysmal kinesigenic choreoathetosis; correlation with benign infantile convulsions]. ( 9844411 )
1998
37
[Ictal 99mTC-HMPAO-SPECT in a case of paroxysmal kinesigenic choreoathetosis]. ( 9916526 )
1998
38
Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy. ( 9822839 )
1998
39
Autosomal dominant paroxysmal kinesigenic choreoathetosis: a clinical and genetic study of two families. ( 9854993 )
1998
40
Ictal muscle discharge pattern and SPECT in paroxysmal kinesigenic choreoathetosis. ( 9098672 )
1997
41
Paroxysmal kinesigenic choreoathetosis. ( 9270627 )
1997
42
Paroxysmal kinesigenic choreoathetosis. ( 8967112 )
1996
43
Epilepsy or paroxysmal kinesigenic choreoathetosis? ( 8733907 )
1996
44
Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepine. ( 8857757 )
1996
45
Paroxysmal kinesigenic choreoathetosis associated with prenatal brain damage. ( 7645399 )
1995
46
Paroxysmal kinesigenic choreoathetosis. ( 1431979 )
1992
47
Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks. ( 1868806 )
1991
48
Paroxysmal kinesigenic choreoathetosis as presenting symptom of multiple sclerosis. ( 1895138 )
1991
49
[Paroxysmal kinesigenic choreoathetosis: autonomic disease or reflex epilepsy?]. ( 2309057 )
1990
50
Idiopathic hypoparathyroidism and paroxysmal kinesigenic choreoathetosis. ( 2802542 )
1989

Variations for Episodic Kinesigenic Dyskinesia 1

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

75
# 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

ClinVar genetic disease variations for Episodic Kinesigenic Dyskinesia 1:

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRRT2 NM_145239.2(PRRT2): c.649delC (p.Arg217Glufs) deletion Pathogenic rs730882071 GRCh37 Chromosome 16, 29825024: 29825024
2 PRRT2 NM_145239.2(PRRT2): c.649delC (p.Arg217Glufs) deletion Pathogenic rs730882071 GRCh38 Chromosome 16, 29813703: 29813703
3 PRRT2 NM_145239.2(PRRT2): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs397514579 GRCh37 Chromosome 16, 29825123: 29825123
4 PRRT2 NM_145239.2(PRRT2): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs397514579 GRCh38 Chromosome 16, 29813802: 29813802
5 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic/Likely pathogenic rs587778771 GRCh38 Chromosome 16, 29813703: 29813703
6 PRRT2 NM_145239.2(PRRT2): c.719G> A (p.Arg240Gln) single nucleotide variant Uncertain significance rs758246761 GRCh37 Chromosome 16, 29825094: 29825094
7 PRRT2 NM_145239.2(PRRT2): c.719G> A (p.Arg240Gln) single nucleotide variant Uncertain significance rs758246761 GRCh38 Chromosome 16, 29813773: 29813773
8 PRRT2 NM_145239.2(PRRT2): c.455C> A (p.Pro152His) single nucleotide variant Uncertain significance rs760278435 GRCh37 Chromosome 16, 29824830: 29824830
9 PRRT2 NM_145239.2(PRRT2): c.455C> A (p.Pro152His) single nucleotide variant Uncertain significance rs760278435 GRCh38 Chromosome 16, 29813509: 29813509
10 PRRT2 NC_000016.10: g.(?_29812990)_(29815881_?)dup duplication Uncertain significance GRCh37 Chromosome 16, 29824311: 29827202
11 PRRT2 NC_000016.10: g.(?_29812990)_(29815881_?)dup duplication Uncertain significance GRCh38 Chromosome 16, 29812990: 29815881
12 PRRT2 NM_145239.2(PRRT2): c.635A> G (p.Asn212Ser) single nucleotide variant Uncertain significance rs779020826 GRCh37 Chromosome 16, 29825010: 29825010
13 PRRT2 NM_145239.2(PRRT2): c.635A> G (p.Asn212Ser) single nucleotide variant Uncertain significance rs779020826 GRCh38 Chromosome 16, 29813689: 29813689
14 PRRT2 NM_145239.2(PRRT2): c.923G> A (p.Arg308His) single nucleotide variant Uncertain significance rs989894169 GRCh37 Chromosome 16, 29825697: 29825697
15 PRRT2 NM_145239.2(PRRT2): c.923G> A (p.Arg308His) single nucleotide variant Uncertain significance rs989894169 GRCh38 Chromosome 16, 29814376: 29814376
16 PRRT2 NM_145239.2(PRRT2): c.932G> C (p.Arg311Pro) single nucleotide variant Uncertain significance rs866838115 GRCh37 Chromosome 16, 29825706: 29825706
17 PRRT2 NM_145239.2(PRRT2): c.932G> C (p.Arg311Pro) single nucleotide variant Uncertain significance rs866838115 GRCh38 Chromosome 16, 29814385: 29814385
18 PRRT2 NM_001256442.1(PRRT2): c.959C> T (p.Ala320Val) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 29825733: 29825733
19 PRRT2 NM_001256442.1(PRRT2): c.959C> T (p.Ala320Val) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 29814412: 29814412
20 PRRT2 NM_145239.2(PRRT2): c.431C> T (p.Pro144Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 29824806: 29824806
21 PRRT2 NM_145239.2(PRRT2): c.431C> T (p.Pro144Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 29813485: 29813485
22 PRRT2 NM_145239.2(PRRT2): c.922C> T (p.Arg308Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs932713001 GRCh37 Chromosome 16, 29825696: 29825696
23 PRRT2 NM_145239.2(PRRT2): c.922C> T (p.Arg308Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs932713001 GRCh38 Chromosome 16, 29814375: 29814375
24 PRRT2 NC_000016.10: g.(?_29813035)_(29814658_?)del deletion Pathogenic GRCh37 Chromosome 16, 29824356: 29825979
25 PRRT2 NC_000016.10: g.(?_29813035)_(29814658_?)del deletion Pathogenic GRCh38 Chromosome 16, 29813035: 29814658
26 PRRT2 NC_000016.9: g.(?_29824356)_(29825979_?)dup duplication Uncertain significance GRCh37 Chromosome 16, 29824356: 29825979
27 PRRT2 NM_145239.2(PRRT2): c.66C> T (p.Gly22=) single nucleotide variant Conflicting interpretations of pathogenicity rs775756146 GRCh37 Chromosome 16, 29824441: 29824441
28 PRRT2 NM_145239.2(PRRT2): c.66C> T (p.Gly22=) single nucleotide variant Conflicting interpretations of pathogenicity rs775756146 GRCh38 Chromosome 16, 29813120: 29813120
29 PRRT2 NM_145239.2(PRRT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs758787026 GRCh37 Chromosome 16, 29824668: 29824668
30 PRRT2 NM_145239.2(PRRT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs758787026 GRCh38 Chromosome 16, 29813347: 29813347
31 PRRT2 NM_145239.2(PRRT2): c.364C> A (p.Gln122Lys) single nucleotide variant Likely benign GRCh37 Chromosome 16, 29824739: 29824739
32 PRRT2 NM_145239.2(PRRT2): c.364C> A (p.Gln122Lys) single nucleotide variant Likely benign GRCh38 Chromosome 16, 29813418: 29813418
33 PRRT2 NM_145239.2(PRRT2): c.734G> A (p.Arg245His) single nucleotide variant Uncertain significance rs754897123 GRCh37 Chromosome 16, 29825109: 29825109
34 PRRT2 NM_145239.2(PRRT2): c.734G> A (p.Arg245His) single nucleotide variant Uncertain significance rs754897123 GRCh38 Chromosome 16, 29813788: 29813788
35 PRRT2 NM_145239.2(PRRT2): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs77838305 GRCh37 Chromosome 16, 29825024: 29825024
36 PRRT2 NM_145239.2(PRRT2): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs77838305 GRCh38 Chromosome 16, 29813703: 29813703
37 PRRT2 NM_145239.2(PRRT2): c.879+6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201887920 GRCh37 Chromosome 16, 29825260: 29825260
38 PRRT2 NM_145239.2(PRRT2): c.879+6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201887920 GRCh38 Chromosome 16, 29813939: 29813939
39 PRRT2 NM_145239.2(PRRT2): c.755C> G (p.Ala252Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs1053144630 GRCh37 Chromosome 16, 29825130: 29825130
40 PRRT2 NM_145239.2(PRRT2): c.755C> G (p.Ala252Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs1053144630 GRCh38 Chromosome 16, 29813809: 29813809
41 PRRT2 NM_145239.2(PRRT2): c.535_538delCAAG (p.Gln179Argfs) deletion Pathogenic GRCh37 Chromosome 16, 29824910: 29824913
42 PRRT2 NM_145239.2(PRRT2): c.535_538delCAAG (p.Gln179Argfs) deletion Pathogenic GRCh38 Chromosome 16, 29813589: 29813592
43 PRRT2 NM_145239.2(PRRT2): c.483T> C (p.Pro161=) single nucleotide variant Likely benign rs751980660 GRCh38 Chromosome 16, 29813537: 29813537
44 PRRT2 NM_145239.2(PRRT2): c.483T> C (p.Pro161=) single nucleotide variant Likely benign rs751980660 GRCh37 Chromosome 16, 29824858: 29824858
45 PRRT2 NM_145239.2(PRRT2): c.990C> T (p.Ala330=) single nucleotide variant Likely benign GRCh37 Chromosome 16, 29825764: 29825764
46 PRRT2 NM_145239.2(PRRT2): c.990C> T (p.Ala330=) single nucleotide variant Likely benign GRCh38 Chromosome 16, 29814443: 29814443
47 PRRT2 NM_145239.2(PRRT2): c.997G> A (p.Val333Ile) single nucleotide variant Uncertain significance rs749851660 GRCh37 Chromosome 16, 29825771: 29825771
48 PRRT2 NM_145239.2(PRRT2): c.997G> A (p.Val333Ile) single nucleotide variant Uncertain significance rs749851660 GRCh38 Chromosome 16, 29814450: 29814450
49 PRRT2 NM_145239.2(PRRT2): c.432C> T (p.Pro144=) single nucleotide variant Likely benign rs749031499 GRCh37 Chromosome 16, 29824807: 29824807
50 PRRT2 NM_145239.2(PRRT2): c.432C> T (p.Pro144=) single nucleotide variant Likely benign rs749031499 GRCh38 Chromosome 16, 29813486: 29813486

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 GRIA1 KCNA1 PRKD1

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 KCNA1 PRRT2 SNAP25
2 cell junction GO:0030054 9.62 GRIA1 KCNA1 PRRT2 SNAP25
3 glutamatergic synapse GO:0098978 9.61 GRIA1 KCNA1 SNAP25
4 synapse GO:0045202 9.56 GRIA1 KCNA1 PRRT2 SNAP25
5 axon terminus GO:0043679 9.4 KCNA1 PRRT2
6 somatodendritic compartment GO:0036477 9.16 GRIA1 SNAP25
7 synaptic vesicle GO:0008021 9.13 GRIA1 PRRT2 SNAP25
8 presynaptic membrane GO:0042734 8.8 KCNA1 PRRT2 SNAP25
9 membrane GO:0016020 10.02 ABCC11 ABCC12 APPL1 GRIA1 KCNA1 PNKD

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 GRIA1 KCNA1 SNAP25
2 regulation of postsynaptic membrane potential GO:0060078 9.26 GRIA1 KCNA1
3 neuromuscular process controlling posture GO:0050884 8.96 PNKD PRRT2
4 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 8.62 PRRT2 SNAP25

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 KCNA1 SNAP25
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.96 ABCC11 ABCC12
3 syntaxin-1 binding GO:0017075 8.62 PRRT2 SNAP25

Sources for Episodic Kinesigenic Dyskinesia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
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51 NDF-RT
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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