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…How do we clinically distinguish subtypes of myoclonus? A retrospective study
Objective: To evaluate the accuracy of clinical phenotyping in a heterogeneous cohort of patients presenting with myoclonus and to determine clinical characteristics. Furthermore, we studied…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.