EPRPDC
MCID: EPL138
MIFTS: 15

Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp (EPRPDC)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

MalaCards integrated aliases for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:

Name: Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 58 13
Epilepsy, Rolandic with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 74
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer's Cramp Syndrome 60
Re-Ped-Wc 58
Eprpdc 58

Characteristics:

Orphanet epidemiological data:

60
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy (1-2 years)
seizures and dystonia peak during childhood


HPO:

33
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 608105
MESH via Orphanet 46 C535499
UMLS via Orphanet 75 C1842531
Orphanet 60 ORPHA163727
MedGen 43 C1842531
UMLS 74 C1842531

Summaries for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

MalaCards based summary : Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp, also known as epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp, is related to dystonia, and has symptoms including dystonia An important gene associated with Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp is EPRPDC (Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp). Related phenotypes are horizontal nystagmus and paroxysmal dystonia

Description from OMIM: 608105

Related Diseases for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

Diseases related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 11.3

Symptoms & Phenotypes for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

Human phenotypes related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 horizontal nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000666
2 paroxysmal dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0002268
3 writer's cramp 60 33 frequent (33%) Frequent (79-30%) HP:0002356
4 prolonged somatosensory evoked potentials 60 33 frequent (33%) Frequent (79-30%) HP:0007104
5 hemifacial seizures 60 33 frequent (33%) Frequent (79-30%) HP:0007332
6 eeg with parietal sharp waves 60 33 frequent (33%) Frequent (79-30%) HP:0011295
7 eeg with parietal focal spike waves 60 33 frequent (33%) Frequent (79-30%) HP:0012012
8 seizures 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
writer's cramp
nystagmus, horizontal
seizures, partial, often hemifacial
seizures, generalized, may occur
paroxysmal dystonia, exercise-induced
more
Head And Neck Eyes:
nystagmus, horizontal

Clinical features from OMIM:

608105

UMLS symptoms related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:


dystonia

Drugs & Therapeutics for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

Search Clinical Trials , NIH Clinical Center for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp

Genetic Tests for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

Anatomical Context for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

Publications for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

Variations for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

Expression for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

Search GEO for disease gene expression data for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp.

Pathways for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

GO Terms for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

Sources for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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