ZFIN Human Disease: familial adult myoclonic epilepsy 2

OBO ID: DOID:0111692

Term Name:	familial adult myoclonic epilepsy 2		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease familial adult myoclonic epilepsy autosomal dominant disease familial adult myoclonic epilepsy Show first 5 Terms

OTHER familial adult myoclonic epilepsy 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STARD7	stard7	Epilepsy, familial adult myoclonic, 2	607876

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None