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Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Childhood absence epilepsy
4 OMIM references -
6 associated genes
No signs/symptoms info
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Childhood absence epilepsy

SLC2A1
(UniProt - OMIM)
 CACNA1H
(UniProt - OMIM)
GABRA1
(UniProt - OMIM)
GABRB3
(UniProt - OMIM)
GABRG2
(UniProt - OMIM)
JRK
(UniProt - OMIM)
SLC2A1
(UniProt - OMIM)

COMMON
GENES 		SLC2A1


Citations in the biomedical literature:


Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
SLC2A1
Childhood absence epilepsy
CACNA1H GABRA1 GABRB3 GABRG2 JRK



Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Childhood absence epilepsy

Synonym(s):
- DYT9
- Episodic choreoathetosis/spasticity
Synonym(s):
- Pyknolepsy
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:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.