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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 associated genes
No signs/symptoms info
Alternating hemiplegia of childhood
Epilepsy with myoclonic-astatic seizures

ATP1A2 CHD2
ATP1A3 SCN1A
CACNA1A SLC2A1
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ATP1A3
(0.63)
CHD2



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Epilepsy with myoclonic-astatic seizures
CHD2 SCN1A SLC2A1



Alternating hemiplegia of childhood
Epilepsy with myoclonic-astatic seizures

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

Synonym(s):
- Doose syndrome
- EMAS
- Epilepsy with myoclonic-atonic seizures
- MAE
- Myoclonic atonic epilepsy
- Myoclonic-astatic epilepsy in early childhood

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: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown

External references:
2 OMIM references -
1 MeSH reference: C536589
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.