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 57 13
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer's Cramp Syndrome 12 58 29 6 15
Epilepsy, Rolandic, with Proxysmal Exercise-Induce Dystonia and Writer's Cramp 57 73 39
Re-Ped-Wc 57 12 73
Eprpdc 57 12 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®:

57 (Updated 05-Mar-2021)
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® 57 608105
MeSH 44 D019305
MESH via Orphanet 45 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® : 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) (Updated 05-Mar-2021)

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...

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 dystonia 31.3 TBC1D24 PRRT2 EPRPDC
2 benign epilepsy with centrotemporal spikes 30.3 TBC1D24 SCN2A PRRT2
3 convulsions, familial infantile, with paroxysmal choreoathetosis 11.7
4 episodic kinesigenic dyskinesia 1 11.7
5 paroxysmal dystonia 10.5
6 malignant migrating partial seizures of infancy 10.0 TBC1D24 SCN2A
7 familial febrile seizures 9.9 TBC1D24 SCN2A
8 migraine, familial hemiplegic, 3 9.9 SCN2A PRRT2
9 early myoclonic encephalopathy 9.9 TBC1D24 SCN2A
10 infancy electroclinical syndrome 9.9 SCN2A PRRT2
11 focal epilepsy 9.9 TBC1D24 SCN2A
12 benign familial neonatal epilepsy 9.9 SCN2A PRRT2
13 febrile seizures 9.9 SCN2A PRRT2
14 benign familial infantile epilepsy 9.9 SCN2A PRRT2
15 episodic ataxia 9.8 SCN2A PRRT2
16 migraine with aura 9.8 SCN2A PRRT2
17 generalized epilepsy with febrile seizures plus 9.7 SCN2A PRRT2
18 epilepsy, idiopathic generalized 9.7 SCN2A PRRT2
19 neonatal period electroclinical syndrome 9.7 TBC1D24 SCN2A PRRT2
20 electroclinical syndrome 9.7 TBC1D24 SCN2A PRRT2
21 movement disease 9.7 TBC1D24 SCN2A PRRT2
22 dravet syndrome 9.7 TBC1D24 SCN2A PRRT2
23 west syndrome 9.7 TBC1D24 SCN2A PRRT2
24 seizure disorder 9.6 TBC1D24 SCN2A PRRT2
25 early infantile epileptic encephalopathy 9.6 TBC1D24 SCN2A PRRT2
26 developmental and epileptic encephalopathy 16 9.6 USP6 TBC1D24 CDC16
27 deafness, autosomal dominant 65 9.6 USP6 TBC1D24 CDC16
28 deafness, autosomal recessive 86 9.6 USP6 TBC1D24 CDC16
29 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.6 USP6 TBC1D24 CDC16
30 martsolf syndrome 9.6 USP6 TBC1D24 CDC16
31 childhood absence epilepsy 9.6 SCN2A PRRT2

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 dysarthria 31 HP:0001260
10 tremor 31 HP:0001337
11 myoclonus 31 HP:0001336
12 hemifacial seizures 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 57 6
10072049 1999
2
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. 6 57
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 rs1596973014 16:2550467-2550467 16:2500466-2500466
2 TBC1D24 NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His) SNV Pathogenic 652619 rs765965968 16:2548334-2548334 16:2498333-2498333
3 TBC1D24 NM_020705.3(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1]) Microsatellite Pathogenic 418692 rs761918906 16:2546378-2546389 16:2496377-2496388
4 TBC1D24 NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) SNV Pathogenic 419296 rs564477999 16:2550465-2550465 16:2500464-2500464

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 rs765965968
2 TBC1D24 p.Ala500Val VAR_083256 rs564477999
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 presynapse GO:0098793 8.62 TBC1D24 PRRT2

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....