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Disease Ontology Browser
familial adult myoclonic epilepsy 5 (DOID:0111691)
Alliance: disease page
Synonyms: FAME5; familial cortical myoclonic tremor and epilepsy 5; FCMTE5
Alt IDs: OMIM:615400
Definition: A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory