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

CACNA1H SLC2A1
GABRA1
GABRB3
GABRG2
JRK
SLC2A1


COMMON
GENES
SLC2A1



Citations in the biomedical literature:


Childhood absence epilepsy
CACNA1H GABRA1 GABRB3 GABRG2 JRK SLC2A1

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity



Childhood absence epilepsy
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

Synonym(s):
- Pyknolepsy

Synonym(s):
- DYT9
- Episodic choreoathetosis/spasticity

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

No signs/symptoms info available.