MCID: PRR035
MIFTS: 10

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 24
Prrt2-Pxmd 24

Characteristics:

GeneReviews:

24
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 convulsions, familial infantile, with paroxysmal choreoathetosis. 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:

(showing 9, show less)
# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 1 10.3
2 convulsions, familial infantile, with paroxysmal choreoathetosis 10.3
3 seizures, benign familial infantile, 2 10.3
4 chromosome 16p11.2 deletion syndrome, 593-kb 10.3
5 benign familial infantile epilepsy 10.3
6 movement disease 10.3
7 dystonia 10.3
8 hemiplegic migraine 10.3
9 infantile epilepsy syndrome 10.3

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:

41
Cerebellum

Publications for Prrt2-Associated Paroxysmal Movement Disorders

Articles related to Prrt2-Associated Paroxysmal Movement Disorders:

(showing 30, show less)
# Title Authors PMID Year
1
PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. 4
29056747 2018
2
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. 4
28007585 2017
3
Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl. 4
28018471 2016
4
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. 4
27079681 2016
5
PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery. 4
27052163 2016
6
Timing, rates and spectra of human germline mutation. 4
26656846 2016
7
Medical management of epileptic seizures: challenges and solutions. 4
26966367 2016
8
The evolving spectrum of PRRT2-associated paroxysmal diseases. 4
26598493 2015
9
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene. 4
25595153 2015
10
Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. 4
23768507 2014
11
Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion. 4
25667815 2014
12
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome. 4
24100940 2013
13
Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. 4
22902309 2013
14
PRRT2-related disorders: further PKD and ICCA cases and review of the literature. 4
23299620 2013
15
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. 4
23363396 2013
16
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. 4
23190448 2013
17
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 4
23126439 2012
18
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 4
23077018 2012
19
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. 4
23077024 2012
20
PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. 4
22875091 2012
21
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. 4
22515636 2012
22
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 4
22209761 2012
23
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 4
22120146 2011
24
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 4
22101681 2011
25
The spectrum of benign infantile seizures. 4
16837167 2006
26
Benign familial infantile seizures. 4
15737697 2005
27
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. 4
15623687 2004
28
Benign familial infantile seizures: further delineation of the syndrome. 4
12503648 2002
29
Benign complex partial epilepsies in infancy. 4
3508067 1987
30
PRRT2-Associated Paroxysmal Movement Disorders 38
29334453 2018

Variations for Prrt2-Associated Paroxysmal Movement Disorders

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

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