Familial Adult Myoclonic Epilepsy 1

Preferred Label : Familial Adult Myoclonic Epilepsy 1;

NCIt synonyms : FAME1; FCMTE1; Familial Cortical Myoclonic Tremor Associated with Epilepsy-1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SAMD12 gene, encoding sterile alpha motif domain-containing protein 12. It is characterized by adult onset cortical myoclonic tremor and epilepsy.;

Details

Origin ID

C206111;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

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