Movement disorders in children with progressive myoclonic epilepsies
Objective: To analyze the clinical aspects, radiological features and evolution of myoclonus and other movement disorders (MD) in children with progressive myoclonic epilepsies (PMEs). Background:…Aberrant visual-related networks in familial cortical myoclonic tremor with epilepsy
Objective: To explore the mechanism of prominent visual-related symptoms and photosensitivity, and to investigate alterations of local brain activity and visual-related networks using resting-state functional magnetic…NUS1 Mutation Causing Ataxia, Myoclonus, and Progressive Encephalopathy
Objective: Describe a rare cause of progressive myoclonus, ataxia, developmental delay Background: 37-year-old man with normal birth but delays in developmental milestones presented for evaluation…Founder effect in (TTTTA)exp(TTTCA)exp and pure (TTTTA)exp in familial cortical myoclonic tremor with epilepsy type 1-SAMD12 locus
Objective: To detect the founder effect between familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) patients with (TTTTA)exp(TTTCA)exp (exp, expansion) in SAMD12 and healthy controls with…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)…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.