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Metadata
ID DOID:0111692
Name familial adult myoclonic epilepsy 2
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.
https://www.ncbi.nlm.nih.gov/pubmed/22491192, https://www.ncbi.nlm.nih.gov/pubmed/24114805, https://www.ncbi.nlm.nih.gov/pubmed/31664034
Xrefs

OMIM:607876

Synonyms

ADCME [EXACT]

autosomal dominant cortical myoclonus and epilepsy [EXACT]

BAFME2 [EXACT]

benign adult familial myoclonic epilepsy 2 [EXACT]

FAME2 [EXACT]

familial cortical myoclonic tremor and epilepsy 2 [EXACT]

FCMTE2 [EXACT]

Parent Relationships

is_a familial adult myoclonic epilepsy

is_a autosomal dominant disease

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