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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
Encephalopathy due to GLUT1 deficiency

CACNA1H SLC2A1
GABRA1
GABRB3
GABRG2
JRK
SLC2A1


COMMON
GENES
SLC2A1



Citations in the biomedical literature:


Childhood absence epilepsy
CACNA1H GABRA1 GABRB3 GABRG2 JRK SLC2A1

Encephalopathy due to GLUT1 deficiency



Childhood absence epilepsy
Encephalopathy due to GLUT1 deficiency

Synonym(s):
- Pyknolepsy

Synonym(s):
- De Vivo disease
- Glucose transporter type 1 deficiency
- Glut-1 deficiency Syndrome
- Glut1-DS

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.