Genetically determined myoclonus disorders are a result of a large number of genes. They
have wide clinical variation and no systematic nomenclature. With next‐generation …

Abstract Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized
by the development of progressively worsening myoclonus, ataxia, and seizures. A …

Background A myriad of disorders combine myoclonus and ataxia. Most causes are genetic
and an increasing number of genes are being associated with myoclonus‐ataxia syndromes …

Introduction Negative myoclonus (NM) is an involuntary movement caused by a sudden
interruption of muscular activity, resulting in gait problems and falls. Objective To establish …

We report a novel variant of DHDDS mutation in a patient with progressive adult-onset
myoclonus ataxia. The mutation in our patient was different from previous reports of denovo …

Introduction In 2011, a homozygous mutation in GOSR2 (c. 430G> T; p. Gly144Trp) was
reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia …

Progressive myoclonus ataxia (PMA) is a rare clinical syndrome characterized by the
presence of progressive myoclonus and ataxia, and can be accompanied by mild cognitive …

Abstract Objective Patients with Unverricht‐Lundborg disease/EPM1 develop increasing
locomotory disability or ataxia in the course of their disease. To test our hypothesis that …

Myoclonus is often approached in different ways by epileptologists and movement disorder
specialists, leading to confusion in the literature. Multiplicity and inconsistency over the past …

More frequent use of next-generation sequencing led to a paradigm shift in assessing
heredodegenerative diseases. This is particularly notable in progressive myoclonus …