Metadata | |
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ID | DOID:0111696 |
Name | familial adult myoclonic epilepsy 6 |
Definition | A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. https://www.ncbi.nlm.nih.gov/pubmed/29507423 |
Xrefs | |
Synonyms |
BAFME6 [EXACT] benign adult familial myoclonic epilepsy 6 [EXACT] FAME6 [EXACT] familial cortical myoclonic tremor and epilepsy 6 [EXACT] FCMTE6 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance |