Intergenerational repeat instability of TTTCA expansions in SAMD12 might be the major cause of the genetic anticipation in familial cortical myoclonic tremor with epilepsy
Objective: To delineate and analyze the relationship between genetic and clinical features in 78 patients from 23 familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) pedigrees. Background:…Lingual myoclonus associated with brain metastasis located near the primary tongue motor cortex: case report.
Objective: To report a case of a patient with lung cancer who developed lingual myoclonus, revealing brain metastases. Background: Lingual myoclonus has been described associated…Myoclonic epilepsy with ragged-red fibers: the first described clinical case in Ukraine
Objective: To provide a description of a case of myoclonic epilepsy with ragged-red fibers (MERRF) diagnosed in Kyiv, Ukraine. Background: MERRF is a rare mitochondrial…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.