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5 OMIM references -
2 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
1 associated gene
No signs/symptoms info
Benign adult familial myoclonic epilepsy
Autosomal dominant optic atrophy, classic type

ADRA2B OPA1
CNTN2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CNTN2
(0.63)
OPA1



Citations in the biomedical literature:


Benign adult familial myoclonic epilepsy
ADRA2B CNTN2
Autosomal dominant optic atrophy, classic type
OPA1



Benign adult familial myoclonic epilepsy
Autosomal dominant optic atrophy, classic type

Synonym(s):
- ADCME
- Autosomal dominant cortical myoclonus and epilepsy
- BAFME
- FAME
- FCMTE
- Familial adult myoclonic epilepsy
- Familial cortical myoclonic tremor and epilepsy

Synonym(s):
- Autosomal dominant optic atrophy, Kjer type
- Kjer disease

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: elderly
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references

Benign adult familial myoclonic epilepsy

Very frequent
- Autosomal dominant inheritance
- EEG anomalies
- Myoclonus / fasciculations
- Tremor

Frequent
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Facial pain / cephalalgia / migraine
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Transient amaurosis / acute visual trouble


Autosomal dominant optic atrophy, classic type

(no data available)