Cytoscape Web
Click node...


5 OMIM references -
2 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Benign adult familial myoclonic epilepsy
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

ADRA2B CREBBP
CNTN2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CNTN2
(0.78)
CREBBP



Citations in the biomedical literature:


Benign adult familial myoclonic epilepsy
ADRA2B CNTN2
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP



Benign adult familial myoclonic epilepsy
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: elderly
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)