Myoclonus-dystonia (MD) is a rare movement disorder characterized by a combination of
non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for …

Epilepsy affects approximately 1% of the world's population. Genetic factors and acquired
etiologies, as well as a range of environmental triggers, together contribute to …

Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically
and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and …

Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by
myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two …

Objective Several small case series identified KCTD7 mutations in patients with a rare
autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and …

Background and purpose Despite recent advances in neurogenetics that have facilitated the
identification of a number of dystonia genes, many familial dystonia syndromes remain …

Mutations in the potassium channel-related gene KCTD7 were described so far in a single
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …

Abstract Purpose of Review To summarize the molecular and clinical findings of KMT2B-
related dystonia (DYT-KMT2B), a newly identified genetic dystonia syndrome. Recent …

Progressive myoclonic epilepsy (PME) is a heterogeneous group of epilepsies
characterized by myoclonus, seizures and progressive neurological symptoms. The index …

Myoclonus-dystonia (MD) is a very rare movement disorder, caused in∼ 30–50% of cases
by mutations in SGCE. The CACNA1B variant c. 4166G> A;(p. R1389H) was recently …