Visualize Submit Comment
Metadata
ID DOID:0111696
Name familial adult myoclonic epilepsy 6
Definition A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1.
https://www.ncbi.nlm.nih.gov/pubmed/29507423
Xrefs

MIM:618074

Synonyms

BAFME6 [EXACT]

benign adult familial myoclonic epilepsy 6 [EXACT]

FAME6 [EXACT]

familial cortical myoclonic tremor and epilepsy 6 [EXACT]

FCMTE6 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a familial adult myoclonic epilepsy

Subclass Logical Relationships

existence starts during some Adult onset

has material basis in some autosomal dominant inheritance

Add an item to the term tracker