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 …
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 …
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 …
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 …
diseases with genetic heterogeneity and phenotypic similarities, and many cases remain …
New discoveries in progressive myoclonus epilepsies: a clinical outlook
ABSTRACT Introduction: Progressive myoclonus epilepsies (PMEs) constitute a rare and
heterogeneous group of genetic disorders with a distinctive triad of myoclonus, seizures …
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 …
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 …
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 …
neurodegenerative diseases with debilitating evolution, resistance to treatment and poor …
Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy
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 …
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 …
heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved …