Beyond “benign”, tremor and epilepsy in FAME3-A New Family Report with Progressive Course and Cognitive Impairment
Objective: To report a family with Familial Cortical Myoclonic Tremor with Epilepsy(FAME) type 3 diagnosed through long-read sequencing and presenting a progressive disease course and…Phenotypical Study of Progressive Myoclonic Epilepsy in Eastern Algeria
Objective: We aim to analyze phenotypical features of individuals from eastern Algeria having a PME phenotype followed in our center (Dr Benbadis University Hospital). Background:…Disrupted NOVA2-Mediated Splicing by (TTTCA) Repeat Expansion: Unveiling Aberrant Synaptic Gene Regulation in FCMTE1
Objective: This study aims to explore the possible pathogenic mechanisms of FCMTE1 from the perspectives of RNA toxicity and RNA binding protein. Background: FCMTE1 is characterized…A Poor Prognosis for Acute Post Hypoxic Myoclonus with Status Epilepticus: A Case Report
Objective: This article reviews the diagnosis, management, and prognosis of acute Post Hypoxic Myoclonus (PHM) with myoclonic status (MS) and status epilepticus (SE) based on…‘If you can’t beat them, join them’: a patient and family perspective on quality of life with North Sea progressive myoclonus epilepsy
Objective: To describe the perspectives of patients and their family on quality of life (QoL) in North Sea- Progressive Myoclonus Epilepsy (NS-PME). Background: NS-PME is…When Jerks and Stumbles Become More Than Just Clumsiness
Objective: To describe a case of a girl with progressive seizures, imbalance and regression due to a rare disorder and discuss the approach to the…Positive and negative myoclonus monitoring using ambulatory surface EMG and 3D accelerometry
Objective: An objective method is presented for monitoring of positive and negative myoclonus using wearable surface EMG and 3D accelerometry in clinical and home settings.…Conventional anti-epileptic drugs used in North Sea Progressive Myoclonus Epilepsy revisited in a Drosophila model
Objective: To determine the effect of conventional anti-epileptic drugs in a North Sea Progressive Myoclonus Epilepsy (NS-PME) Drosophila model. Background: In 2011, Corbett et al.…Progressive myoclonic epilepsy ataxia syndrome associated with NUS1 gene mutation
Objective: To describe a rare case of NUS1 gene mutation related progressive epilepsy myoclonus ataxia syndrome. Background: Pathogenic variants of NUS1 gene have been associated…Movement disorders in children with progressive myoclonic epilepsies
Objective: To analyze the clinical aspects, radiological features and evolution of myoclonus and other movement disorders (MD) in children with progressive myoclonic epilepsies (PMEs). Background:…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.