Progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy type 3
Definition
Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.
Also known as CLN14 disease, epilepsy, progressive myoclonic 3, with or without intracellular inclusions, EPM3, KCTD7 progressive myoclonic epilepsy, neuronal ceroid lipofuscinosis type 14, PME type 3, progressive myoclonic epilepsy caused by mutation in KCTD7, progressive myoclonic epilepsy due to KCTD7 deficiency, progressive myoclonic epilepsy type 3, progressive myoclonus epilepsy type 3 — per MONDO