Visual cortex involvement in the familial cortical myoclonic tremor with epilepsy type 1: a resting state-fMRI with regional homogeneity analysis
Objective: The purpose of current study was to investigate regional synchronization of the whole brain in patients with familial cortical myoclonic tremor with epilepsy (FCMTE)…Dentatorubral-Pallidoluysian Atrophy outside of Asia: A case report of the first Austrian family harbouring this rare mutation
Objective: To report clinical features of the first Austrian family with Dentatorubral-Pallidoluysian Atrophy (DRPLA). Background: DRPLA is a progressive disorder with an autosomal-dominant mode of…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:…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:…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:…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…