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Summary Literature (0)
DOID:0111690 - familial adult myoclonic epilepsy 1


Disease Ontology Definition:A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12.

Synonyms: BAFME1, FAME1, FCMTE1, benign adult familial myoclonic epilepsy 1, familial cortical myoclonic tremor and epilepsy 1

Xenbase Genes : samd12


OMIM:
OMIM:601068 - EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), familial adult myoclonic epilepsy (is_a)