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

Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2018

van den Ende Tom, Sharifi Sarvi, van der Salm Sandra M A, van Rootselaar Anne-Fleur

Abstract excerpt

Background: Autosomal 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,...

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PMID: 29416935
DOI: 10.7916/D85155WJ
PMCID: PMC5801339

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