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2 OMIM references -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Paroxysmal kinesigenic dyskinesia
Infantile convulsions and choreoathetosis

PRRT2 PRRT2


COMMON
GENES
PRRT2



Citations in the biomedical literature:


Paroxysmal kinesigenic dyskinesia
PRRT2
Infantile convulsions and choreoathetosis



Paroxysmal kinesigenic dyskinesia
Infantile convulsions and choreoathetosis

Synonym(s):
- Familial PKD
- Familial paroxysmal kinesigenic dyskinesia
- Paroxysmal kinesigenic choreathetosis

Synonym(s):
- ICCA syndrome
- Paroxysmal kinesigenic dyskinesia and infantile convulsions

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Infantile convulsions and choreoathetosis

Very frequent
- Chorea / athetosis / choreoathetosis / choreic syndrome
- EEG anomalies
- Hyperkinesia / dyskinesia
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine

Occasional
- Tics / stereotypias


Paroxysmal kinesigenic dyskinesia

(no data available)