EPRPDC
MCID: EPL138
MIFTS: 30

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 56 13
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer's Cramp Syndrome 12 58 29 6 15
Re-Ped-Wc 56 12 73
Eprpdc 56 12 73
Epilepsy, Rolandic, with Proxysmal Exercise-Induce Dystonia and Writer's Cramp 56 73
Epilepsy, Rolandic with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 71
Rolandic Epilepsy with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 12
Rolandic-Type Focal Motor Epilepsy and Exercise-Induced Dystonia 12
Rolandic Epilepsy Exercise-Induced Dystonia 58

Characteristics:

Orphanet epidemiological data:

58
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
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:

31
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111645
OMIM 56 608105
MeSH 43 D019305
MESH via Orphanet 44 C535499
UMLS via Orphanet 72 C1842531
Orphanet 58 ORPHA163727
MedGen 41 C1842531
UMLS 71 C1842531

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

OMIM : 56 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 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome, is related to dystonia and benign epilepsy with centrotemporal spikes, 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 writer's cramp

Disease Ontology : 12 An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has material basis in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3.

UniProtKB/Swiss-Prot : 73 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp: An autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Clinical features include involuntary movements and difficulties with fine motor skills of the hand.

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

Graphical network of the top 20 diseases related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:



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

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000666
2 writer's cramp 58 31 frequent (33%) Frequent (79-30%) HP:0002356
3 paroxysmal dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002268
4 prolonged somatosensory evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0007104
5 eeg with parietal sharp waves 58 31 frequent (33%) Frequent (79-30%) HP:0011295
6 eeg with parietal focal spike waves 58 31 frequent (33%) Frequent (79-30%) HP:0012012
7 focal hemifacial clonic seizure 31 frequent (33%) HP:0007332
8 seizures 58 Occasional (29-5%)
9 myoclonus 31 HP:0001336
10 tremor 31 HP:0001337
11 dysarthria 31 HP:0001260
12 hemifacial seizures 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
tremor
dysarthria
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...

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

# Genetic test Affiliating Genes
1 Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer's Cramp Syndrome 29 TBC1D24

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. 61 56 6
10072049 1999
2
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. 6 56
31257402 2019
3
Idiopathic epilepsy and paroxysmal dyskinesia. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NM_001199107.2(TBC1D24):c.1501G>A (p.Gly501Arg)SNV Pathogenic 652618 16:2550467-2550467 16:2500466-2500466
2 TBC1D24 NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)SNV Pathogenic 652619 16:2548334-2548334 16:2498333-2498333
3 TBC1D24 NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)SNV Likely pathogenic 419296 rs564477999 16:2550465-2550465 16:2500464-2500464
4 TBC1D24 NM_020705.3(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1])short repeat Conflicting interpretations of pathogenicity 418692 rs761918906 16:2546378-2546389 16:2496377-2496388

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:

73
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Arg360His VAR_083255
2 TBC1D24 p.Ala500Val VAR_083256
3 TBC1D24 p.Gly501Arg VAR_083257

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...

Cellular components related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 8.62 EFHC1 CDC16

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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