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8 OMIM references -
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Generalized epilepsy with febrile seizures-plus context
Congenital lethal myopathy, Compton-North type

GABRD CNTN1
GABRG2
SCN1A
SCN1B
SCN2A
SCN9A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SCN1B
(0.72)
CNTN1



Citations in the biomedical literature:


Generalized epilepsy with febrile seizures-plus context
GABRD GABRG2 SCN1A SCN1B SCN2A SCN9A

Congenital lethal myopathy, Compton-North type
CNTN1



Generalized epilepsy with febrile seizures-plus context
Congenital lethal myopathy, Compton-North type

Synonym(s):
- GEFS+

Synonym(s):
(no synonyms)

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: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.