Cytoscape Web
Click node...

Epilepsy with myoclonic-astatic seizures
3 associated genes
No signs/symptoms info
COMMON GENES: 1
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
1 OMIM reference -
1 associated gene
No signs/symptoms info
Epilepsy with myoclonic-astatic seizures
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

CHD2
(UniProt - OMIM)
 SLC2A1
(UniProt - OMIM)
SCN1A
(UniProt - OMIM)
SLC2A1
(UniProt - OMIM)

COMMON
GENES 		SLC2A1


Citations in the biomedical literature:


Epilepsy with myoclonic-astatic seizures
CHD2 SCN1A SLC2A1
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity



Epilepsy with myoclonic-astatic seizures
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

Synonym(s):
- Doose syndrome
- EMAS
- Epilepsy with myoclonic-atonic seizures
- MAE
- Myoclonic atonic epilepsy
- Myoclonic-astatic epilepsy in early childhood
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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.