Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp

General Information (adopted from Orphanet):

Synonyms, Signs: RE-PED-WC
EPRPDC
Number of Symptoms 11
OrphanetNr: 163727
OMIM Id: 608105
ICD-10:
UMLs: C1842531
MeSH: C535499
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Childhood-onset epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000666) Horizontal nystagmus 32 / 7739
2
(HPO:0002356) Writer's cramp 16 / 7739
3
(HPO:0002268) Paroxysmal dystonia 11 / 7739
4
(HPO:0007332) Hemifacial seizures 1 / 7739
5
(HPO:0007104) Prolonged somatosensory evoked potentials 1 / 7739
6
(OMIM) Paroxysmal dystonia, exercise-induced 1 / 7739
7
(OMIM) Seizures, partial, often hemifacial 1 / 7739
8
(HPO:0003593) Infantile onset 249 / 7739
9
(OMIM) EEG shows rolandic sharp waves and spikes 1 / 7739
10
(OMIM) Seizures, generalized, may occur 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 3 members from the same generation of a consanguineous Italian family, Guerrini et al. (1999) described a syndrome comprising rolandic epilepsy (RE; see 117100), paroxysmal exercise-induced dystonia (PED), and writer's cramp (WC). Onset was in infancy, with ...