MCID: EPL138
MIFTS: 15

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

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 57
Epilepsy, Rolandic with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 73
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer's Cramp Syndrome 59
Re-Ped-Wc 57
Eprpdc 57

Characteristics:

Orphanet epidemiological data:

59
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608105
Orphanet 59 ORPHA163727
MESH via Orphanet 45 C535499
UMLS via Orphanet 74 C1842531
MedGen 42 C1842531
UMLS 73 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, is also known as epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp, 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...

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 horizontal nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000666
2 paroxysmal dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002268
3 writer's cramp 59 32 frequent (33%) Frequent (79-30%) HP:0002356
4 prolonged somatosensory evoked potentials 59 32 frequent (33%) Frequent (79-30%) HP:0007104
5 hemifacial seizures 59 32 frequent (33%) Frequent (79-30%) HP:0007332
6 eeg with parietal sharp waves 59 32 frequent (33%) Frequent (79-30%) HP:0011295
7 eeg with parietal focal spike waves 59 32 frequent (33%) Frequent (79-30%) HP:0012012
8 seizures 59 Occasional (29-5%)

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...

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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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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