A retrospective analysis of clinical and electrophysiological characteristics of patients with myoclonus
Objective: We aimed to evaluate the clinical characteristics of patients with myoclonus and to identify the possible etiologies in different types of myoclonus based on…The role of the cerebellum in the pathophysiology of cortical myoclonus: a neurophysiological study.
Objective: To investigate the role of the cerebellum in the pathophysiology of cortical myoclonus (CM). Background: The putative involvement of the cerebellum in the pathogenesis…Progressive Myoclonus Ataxia: An International Database
Objective: Our aim is to create an international database for patients suffering from the rare syndrome of progressive myoclonus ataxia (PMA), containing their clinical, electrophysiological…A novel intronic pentanucleotide TTTGA repeat insertion in SAMD12 causes familial cortical myoclonic tremor with epilepsy type 1
Objective: To identify the genetic cause in a familial cortical myoclonic tremor with epilepsy (FCMTE) pedigree without reported pathogenic(TTTCA)n insertions. Background: FCMTE is an autosomal…Intronic pentanucleotide TTTCA repeat insertions do not cause familial and sporadic cortical myoclonic tremor with epilepsy in the UK
Objective: To ascertain whether intronic TTTCA repeat insertions in the SAMD12, TNRC6Aand RAPGEF2 genes cause benign adult familial myoclonic epilepsy (BAFME) and progressive myoclonic epilepsy in the UK. Background:…Intronic pentanucleotide TTTCA repeat insertion in SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1
Objective: To identify the causative mutation in pedigrees with familial cortical myoclonic tremor with epilepsy (FCMTE) type 1. Background: FCMTE is an autosomal dominant neurodegenerative…Myoclonus in the pediatric age group: A retrospective analysis of clinical and electrophysiological characteristics of patients referred to an electrophysiology laboratory
Objective: We aimed to investigate clinical and electrophysiological features myoclonus in the pediatric age group. Background: Myoclonus is a movement disorder characterized by sudden, brief…Cortical myoclonus explained by cerebellar dysfunction: Evidence from a unique case
Objective: To give a thorough neurophysiological description of a patient presenting with unilateral cortical myoclonus and homolateral congenital cerebellar hemiatrophy Background: The role of the…Corticobasal Syndrome: A Single Center Case Series
Objective: To evaluate clinical features of corticobasal syndrome in a tertiary care setting. Background: None. Methods: A retrospective chart review was done. All patients diagnosed…Reappraisal of cortical myoclonus: a retrospective study of clinical neurophysiology
Objective: The evaluation of the neurophysiological criteria for the diagnosis of cortical myoclonus in patients with a clinical evidence of cortical myoclonus. Background: Myoclonus is…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.