familial adult myoclonic epilepsy 2

Term ID

DOID:0111692

Synonyms

• ADCME
• autosomal dominant cortical myoclonus and epilepsy
• BAFME2
• benign adult familial myoclonic epilepsy 2
• FAME2
• familial cortical myoclonic tremor and epilepsy 2
• FCMTE2

Definition

A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. (3)

References

• OMIM:607876

Ontology

Human Disease   ( DOID:0111692 )