An inherited epileptic syndrome characterised by cortical hand tremors, myoclonic jerks and occasional generalised or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3308730010
Benign adult familial myoclonic epilepsy
Active
Synonym
false
false
3308731014
BAFME - Benign adult familial myoclonic epilepsy
Active
Synonym
false
false
3308732019
Autosomal dominant cortical myoclonus and epilepsy