‘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…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…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:…Aberrant visual-related networks in familial cortical myoclonic tremor with epilepsy
Objective: To explore the mechanism of prominent visual-related symptoms and photosensitivity, and to investigate alterations of local brain activity and visual-related networks using resting-state functional magnetic…NUS1 Mutation Causing Ataxia, Myoclonus, and Progressive Encephalopathy
Objective: Describe a rare cause of progressive myoclonus, ataxia, developmental delay Background: 37-year-old man with normal birth but delays in developmental milestones presented for evaluation…Founder effect in (TTTTA)exp(TTTCA)exp and pure (TTTTA)exp in familial cortical myoclonic tremor with epilepsy type 1-SAMD12 locus
Objective: To detect the founder effect between familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) patients with (TTTTA)exp(TTTCA)exp (exp, expansion) in SAMD12 and healthy controls with…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.