Familial Cortical Myoclonic Tremor and Epilepsy an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

摘要

BackgroundAutosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings.