Thalamic Hub Dysregulation in FCMTE1: Multimodal MRI and Gene-Imaging Evidence
Objective: To characterize brain network abnormalities and gene-imaging associations in genetically confirmed FCMTE1 (SAMD12) patients using multimodal MRI. Background: Familial cortical myoclonic tremor with epilepsy…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…‘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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.