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progressive myoclonic epilepsy type 7

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.
Uniprot Description A neurologic disorder characterized by progressive myoclonic epilepsy, manifesting in the first or second decades of life. Cognitive function may decline in some patients. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles.
Mondo Term and Equivalent IDs
MONDO:0014521:  progressive myoclonic epilepsy type 7
DOID:0111447: 
NCIT:C142804: 
Orphanet:435438: 
UMLS:C4015420: