MCID: PRR035
MIFTS: 14

Prrt2-Associated Paroxysmal Movement Disorders

Aliases & Classifications for Prrt2-Associated Paroxysmal Movement Disorders

MalaCards integrated aliases for Prrt2-Associated Paroxysmal Movement Disorders:

Name: Prrt2-Associated Paroxysmal Movement Disorders 25
Prrt2-Pxmd 25
Pxmd-Prrt2 6

Characteristics:

GeneReviews:

25
Penetrance The penetrance for prrt2-pkd has been estimated to be 60%-90% [van vliet et al 2012]; thus, individuals with a known prrt2 pathogenic variant may be clinically unaffected....

Summaries for Prrt2-Associated Paroxysmal Movement Disorders

MalaCards based summary : Prrt2-Associated Paroxysmal Movement Disorders, also known as prrt2-pxmd, is related to episodic kinesigenic dyskinesia 1 and benign familial infantile epilepsy. An important gene associated with Prrt2-Associated Paroxysmal Movement Disorders is PRRT2 (Proline Rich Transmembrane Protein 2). Affiliated tissues include cerebellum.

GeneReviews: NBK475803

Related Diseases for Prrt2-Associated Paroxysmal Movement Disorders

Diseases related to Prrt2-Associated Paroxysmal Movement Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 1 10.2
2 benign familial infantile epilepsy 10.2
3 movement disease 10.2
4 dystonia 10.2
5 seizure disorder 10.2
6 infantile epilepsy syndrome 10.2

Graphical network of the top 20 diseases related to Prrt2-Associated Paroxysmal Movement Disorders:



Diseases related to Prrt2-Associated Paroxysmal Movement Disorders

Symptoms & Phenotypes for Prrt2-Associated Paroxysmal Movement Disorders

Drugs & Therapeutics for Prrt2-Associated Paroxysmal Movement Disorders

Search Clinical Trials , NIH Clinical Center for Prrt2-Associated Paroxysmal Movement Disorders

Genetic Tests for Prrt2-Associated Paroxysmal Movement Disorders

Anatomical Context for Prrt2-Associated Paroxysmal Movement Disorders

MalaCards organs/tissues related to Prrt2-Associated Paroxysmal Movement Disorders:

40
Cerebellum

Publications for Prrt2-Associated Paroxysmal Movement Disorders

Articles related to Prrt2-Associated Paroxysmal Movement Disorders:

(show all 35)
# Title Authors PMID Year
1
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 25 6
22120146 2011
2
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 25 6
22101681 2011
3
PRRT2 mutations are the major cause of benign familial infantile seizures. 6
22623405 2012
4
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 6
22744660 2012
5
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 6
22399141 2012
6
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 6
22243967 2012
7
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 25
31193310 2019
8
PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. 25
29056747 2018
9
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. 25
28007585 2017
10
Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl. 25
28018471 2016
11
PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery. 25
27052163 2016
12
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. 25
27079681 2016
13
Timing, rates and spectra of human germline mutation. 25
26656846 2016
14
Medical management of epileptic seizures: challenges and solutions. 25
26966367 2016
15
The evolving spectrum of PRRT2-associated paroxysmal diseases. 25
26598493 2015
16
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene. 25
25595153 2015
17
Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. 25
23768507 2014
18
Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion. 25
25667815 2014
19
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome. 25
24100940 2013
20
Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. 25
22902309 2013
21
PRRT2-related disorders: further PKD and ICCA cases and review of the literature. 25
23299620 2013
22
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. 25
23363396 2013
23
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. 25
23190448 2013
24
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 25
23126439 2012
25
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 25
23077018 2012
26
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. 25
23077024 2012
27
PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. 25
22875091 2012
28
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. 25
22515636 2012
29
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 25
22209761 2012
30
The spectrum of benign infantile seizures. 25
16837167 2006
31
Benign familial infantile seizures. 25
15737697 2005
32
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. 25
15623687 2004
33
Benign familial infantile seizures: further delineation of the syndrome. 25
12503648 2002
34
Benign complex partial epilepsies in infancy. 25
3508067 1987
35
PRRT2-Associated Paroxysmal Movement Disorders 61
29334453 2018

Variations for Prrt2-Associated Paroxysmal Movement Disorders

ClinVar genetic disease variations for Prrt2-Associated Paroxysmal Movement Disorders:

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRRT2 NM_145239.3(PRRT2):c.510_513TCTG[1] (p.Ser172fs) Microsatellite Pathogenic 31169 rs730882065 16:29824885-29824888 16:29813564-29813567
2 PRRT2 NM_145239.3(PRRT2):c.972del (p.Val325fs) Deletion Pathogenic 31170 rs730882066 16:29825746-29825746 16:29814425-29814425
3 PRRT2 NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) SNV Pathogenic 31176 rs387907127 16:29824862-29824862 16:29813541-29813541
4 PRRT2 NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) SNV Pathogenic 31177 rs387907128 16:29825171-29825171 16:29813850-29813850
5 PRRT2 NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) SNV Pathogenic 440911 rs1301400509 16:29825733-29825733 16:29814412-29814412
6 PRRT2 NM_145239.3(PRRT2):c.535_538del (p.Gln179fs) Deletion Pathogenic 522556 rs1555502708 16:29824907-29824910 16:29813586-29813589
7 PRRT2 NM_145239.3(PRRT2):c.629dup (p.Ala211fs) Duplication Pathogenic 31171 rs730882067 16:29824997-29824998 16:29813676-29813677
8 PRRT2 NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) SNV Pathogenic 39756 rs397514579 16:29825123-29825123 16:29813802-29813802
9 PRRT2 NM_145239.3(PRRT2):c.510dup (p.Leu171fs) Duplication Pathogenic 65756 rs397515576 16:29824883-29824884 16:29813562-29813563
10 PRRT2 NM_145239.3(PRRT2):c.47_48AG[1] (p.Pro18fs) Microsatellite Pathogenic 813794 16:29824421-29824422 16:29813100-29813101
11 PRRT2 NM_145239.3(PRRT2):c.649dup (p.Arg217fs) Duplication Pathogenic 65758 16:29825015-29825016 16:29813694-29813695
12 PRRT2 NM_145239.3(PRRT2):c.649dup (p.Arg217fs) Duplication Pathogenic 65758 16:29825015-29825016 16:29813694-29813695
13 PRRT2 NM_145239.3(PRRT2):c.304del (p.Glu102fs) Deletion Likely pathogenic 626000 rs1567379016 16:29824679-29824679 16:29813358-29813358
14 PRRT2 NM_145239.3(PRRT2):c.972_975del (p.Val325fs) Deletion Likely pathogenic 536484 rs1555502908 16:29825746-29825749 16:29814425-29814428
15 PRRT2 NM_145239.3(PRRT2):c.649del (p.Arg217fs) Deletion Likely pathogenic 39752 rs587778771 16:29825016-29825016 16:29813695-29813695
16 PRRT2 NM_145239.3(PRRT2):c.293A>G (p.Asn98Ser) SNV Uncertain significance 468613 rs758787026 16:29824668-29824668 16:29813347-29813347
17 PRRT2 NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu) SNV Uncertain significance 451350 rs1317648011 16:29824806-29824806 16:29813485-29813485
18 PRRT2 NM_145239.3(PRRT2):c.680G>A (p.Arg227Gln) SNV Uncertain significance 536485 rs200849527 16:29825055-29825055 16:29813734-29813734
19 PRRT2 NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr) SNV Uncertain significance 206683 rs763634807 16:29824790-29824790 16:29813469-29813469
20 PRRT2 NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro) SNV Uncertain significance 536487 rs727504111 16:29825690-29825690 16:29814369-29814369
21 PRRT2 NM_145239.3(PRRT2):c.967G>T (p.Gly323Trp) SNV Uncertain significance 536488 rs757940549 16:29825741-29825741 16:29814420-29814420
22 PRRT2 NM_145239.3(PRRT2):c.841T>C (p.Trp281Arg) SNV Uncertain significance 571487 rs1567380135 16:29825216-29825216 16:29813895-29813895
23 PRRT2 NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg) SNV Uncertain significance 560656 rs1567378768 16:29824548-29824548 16:29813227-29813227
24 PRRT2 NM_145239.3(PRRT2):c.485C>T (p.Thr162Ile) SNV Uncertain significance 582679 rs755440222 16:29824860-29824860 16:29813539-29813539
25 PRRT2 NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) SNV Uncertain significance 568591 rs200877676 16:29824809-29824809 16:29813488-29813488
26 PRRT2 NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) SNV Uncertain significance 404415 rs779020826 16:29825010-29825010 16:29813689-29813689
27 PRRT2 NC_000016.9:g.(?_29824311)_(29827202_?)dup Duplication Uncertain significance 417331 16:29824311-29827202 16:29812990-29815881
28 PRRT2 NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) SNV Likely benign 65757 rs76335820 16:29825022-29825022 16:29813701-29813701
29 PRRT2 NM_145239.3(PRRT2):c.483T>C (p.Pro161=) SNV Likely benign 536491 rs751980660 16:29824858-29824858 16:29813537-29813537
30 PRRT2 NM_145239.3(PRRT2):c.990C>T (p.Ala330=) SNV Likely benign 536493 rs1322978278 16:29825764-29825764 16:29814443-29814443
31 PRRT2 NM_145239.3(PRRT2):c.364C>A (p.Gln122Lys) SNV Likely benign 468614 rs1555502665 16:29824739-29824739 16:29813418-29813418
32 PRRT2 NM_145239.3(PRRT2):c.439G>C (p.Asp147His) SNV Benign 138813 rs79568162 16:29824814-29824814 16:29813493-29813493
33 PRRT2 NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) SNV Benign 130038 rs79182085 16:29824787-29824787 16:29813466-29813466
34 PRRT2 NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) SNV not provided 284592 rs560303559 16:29825148-29825148 16:29813827-29813827

Expression for Prrt2-Associated Paroxysmal Movement Disorders

Search GEO for disease gene expression data for Prrt2-Associated Paroxysmal Movement Disorders.

Pathways for Prrt2-Associated Paroxysmal Movement Disorders

GO Terms for Prrt2-Associated Paroxysmal Movement Disorders

Sources for Prrt2-Associated Paroxysmal Movement Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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