EPRPDC
MCID: EPL138
MIFTS: 21

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

Categories: Genetic diseases, 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 13
Epilepsy, Rolandic with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 6 72
Epilepsy, Rolandic, with Proxysmal Exercise-Induce Dystonia and Writer's Cramp 57
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
seizures tend to remit with age
features may be exacerbated by fatigue or stress


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608105
MESH via Orphanet 45 C535499
UMLS via Orphanet 73 C1842531
Orphanet 59 ORPHA163727
MedGen 42 C1842531
UMLS 72 C1842531

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

OMIM : 57 Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist (summary by Luthy et al., 2019). (608105)

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 TBC1D24 (TBC1 Domain Family Member 24). Related phenotypes are horizontal nystagmus and paroxysmal dystonia

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 11.4

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:

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%)

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
writer's cramp
nystagmus, horizontal
myoclonic jerks
more
Head And Neck Face:
abnormal facial movements

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...

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

# Title Authors PMID Year
1
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. 38 8
10072049 1999
2
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. 8
31257402 2019
3
Idiopathic epilepsy and paroxysmal dyskinesia. 38
11520321 2001

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

ClinVar genetic disease variations for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NM_001199107.2(TBC1D24): c.1501G> A (p.Gly501Arg) single nucleotide variant Pathogenic 16:2550467-2550467 16:2500466-2500466
2 TBC1D24 NM_001199107.2(TBC1D24): c.1079G> A (p.Arg360His) single nucleotide variant Pathogenic 16:2548334-2548334 16:2498333-2498333
3 TBC1D24 NM_001199107.2(TBC1D24): c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1]) short repeat Conflicting interpretations of pathogenicity rs761918906 16:2546390-2546401 16:2496389-2496400
4 TBC1D24 NM_001199107.2(TBC1D24): c.1499C> T (p.Ala500Val) single nucleotide variant Conflicting interpretations of pathogenicity rs564477999 16:2550465-2550465 16:2500464-2500464

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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