ILAE Genetics Literacy series: Progressive myoclonus epilepsies

JM Cameron, CA Ellis, SF Berkovic… - Epileptic …, 2023 - Wiley Online Library
Abstract Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized
by the development of progressively worsening myoclonus, ataxia, and seizures. A …

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

V Zimmern, B Minassian - Genes, 2024 - mdpi.com
The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature
both myoclonus and seizures that worsen gradually over a variable timeframe. While each of …

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

A Shahwan, M Farrell, N Delanty - The Lancet Neurology, 2005 - thelancet.com
The progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalised
epilepsies caused by rare disorders, most of which have a genetic component, a debilitating …

[HTML][HTML] Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy

J Zhang, Y Yang, X Niu, J Chen, W Sun, C Ding… - Acta Epileptologica, 2020 - Springer
Background Progressive myoclonic epilepsy (PME) is a group of neurodegenerative
diseases with genetic heterogeneity and phenotypic similarities, and many cases remain …

New discoveries in progressive myoclonus epilepsies: a clinical outlook

S Bhat, S Ganesh - Expert Review of Neurotherapeutics, 2018 - Taylor & Francis
ABSTRACT Introduction: Progressive myoclonus epilepsies (PMEs) constitute a rare and
heterogeneous group of genetic disorders with a distinctive triad of myoclonus, seizures …

Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome

DJ Costello, KH Chiappa, P Siao - Archives of neurology, 2009 - jamanetwork.com
Background The progressive myoclonic epilepsies (PMEs) are a disparate group of
syndromes whose common features include disabling myoclonus, progressive cognitive …

Progressive myoclonic epilepsies: it takes a village to make a diagnosis

K Knupp, E Wirrell - Neurology, 2014 - AAN Enterprises
The progressive myoclonic epilepsies (PMEs) are a devastating group of rare disorders1
that manifest with increasing action myoclonus, which is also present at rest but activates …

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

LFM De Siqueira - Journal of neurology, 2010 - Springer
The progressive myoclonic epilepsies (PME) are a rare group of inherited
neurodegenerative diseases with debilitating evolution, resistance to treatment and poor …

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy

RH Thomas, SK Chung, K Hamandi, MI Rees… - Epilepsy & Behavior, 2013 - Elsevier
It has been estimated that JME (juvenile myoclonic epilepsy), when compared to other adult
epilepsy syndromes, is most likely to have a genetic cause. However, decades of research …

[PDF][PDF] Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway …

C Courage, KL Oliver, EJ Park, JM Cameron… - The American Journal of …, 2021 - cell.com
Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically
heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved …