A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy
Objective: To report for the first time on a detailed description of the phenotype, natural history and quality of life (QoL) in a relatively large…PRRT2 mutations are associated with a wide intrafamilial ad interfamilial phenotypic variability
Objective: To describe the different clinical syndromes associated with PRRT2 mutations in two different families Background: Mutations in the Proline-Rich Transmembrane Protein 2 (PRRT2) gene…Multi-modal MRI in patients with genetically confirmed familial cortical myoclonic tremor with epilepsy type 1
Objective: The present study utilized multi-modal MRI study to investigate the structural and functional alterations in genetically confirmed familial cortical myoclonic tremor with epilepsy type…New Nomenclature Of Genetic Myoclonus Syndromes
Objective: In collaboration with the International Parkinson and Movement Disorder Task Force for Nomenclature of Genetic Movement Disorders, we present a new classification of genetically…Movement Disorders Phenomenology in Focal Motor Seizures
Objective: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling diagnostic criteria for one or more movement disorder. Background:…Two siblings with action myoclonus renal failure syndrome
Objective: To describe two cases of the rare action myoclonus renal failure syndrome. Background: Action Myoclonus Renal Failure syndrome (AMRF) is characterized by neurological symptoms…Fahr’s syndrome in a Filipino female with hearing loss and polycystic ovaries: A case report
Objective: The objective of this case report is to document a case of Fahr's syndrome including its varied clinical manifestations. Background: Idiopathic basal ganglia calcification,…The interrater variability in clinical assessment of post-hypoxic myoclonus
Objective: To investigate the interrater variability in clinical assessment of acute post-hypoxic myoclonus (PHM) after cardiopulmonary resuscitation. Background: PHM is a clinical symptom that can…Familial cortical myoclonic tremor with epilepsy in Chinese population: Clinical and neurophysiologic features in nine pedigrees from People’s Republic of China
Objective: To delineate and analyze the clinical and neurophysiologic features of 55 patients from nine Chinese familial cortical myoclonic tremor with epilepsy (FCMTE) pedigrees. Background:…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.