familial adult myoclonic epilepsy 1

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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 the SAMD12 gene 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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: samd12

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)