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Benign adult familial myoclonic epilepsy
5 OMIM references -
2 associated genes
26 connected diseases
8 signs/symptoms
Disease Type of connection
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Cree leukoencephalopathy
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Ovarioleukodystrophy
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Congenital lethal myopathy, Compton-North type
Hirschsprung disease
Hydrocephalus with stenosis of aqueduct of Sylvius
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
Cortical dysplasia - focal epilepsy syndrome
Pitt-Hopkins-like syndrome
Giant cell glioblastoma
Gliosarcoma
Amyotrophic lateral sclerosis
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Young adult-onset Parkinsonism
Synonym(s):
- ADCME
- Autosomal dominant cortical myoclonus and epilepsy
- BAFME
- FAME
- FCMTE
- Familial adult myoclonic epilepsy
- Familial cortical myoclonic tremor and epilepsy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: elderly
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ADRA2B P18089104260
CNTN2 Q02246190197
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