Results 81 to 90 of about 53,170 (302)
Investigating the molecular and cellular basis of ε-sarcoglycan-associated myoclonus-dystonia in an iPSC-derived neuronal model [PDF]
, 2023 peer reviewedSGCE-related myoclonus-dystonia (M-D) underlies the epigenetic process of imprinting. This leads to the phenomenon of reduced penetrance upon maternal transmission of a pathogenic variant.
Carlisle, Francesca +9 more
core
A guide to neuromodulation in drug‐resistant epilepsy
Epileptic Disorders, EarlyView.Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh +10 more
wiley +1 more source
Is tremor in dystonia a phenotypic feature of dystonia? [PDF]
, 2015 To understand better the features and mechanisms distinguishing tremor in dystonia, we reviewed the epidemiologic, clinical, and neurophysiologic data in patients with dystonia and tremor.
DEFAZIO, GIOVANNI +6 more
core +1 more source
Journal of the Neurological Sciences, 2002 The mechanisms underlying dystonia after injury are unclear. Pain has been implicated as an important factor. We report four patients who exhibited segmental dystonia following removal of a cast, only two of whom experienced pain during casting.
The Neurology Service, Department of Neurology, University of Florida College of Medicine S. Newell Drive, L3-100, Gainesville, FL 32610-0236, USA ( host institution ) +4 more
openaire +3 more sources
NMDAR‐antibody encephalitis: Seizure semiology and EEG findings
Epileptic Disorders, EarlyView.Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus +6 more
wiley +1 more source
CLINICAL PHENOMENOLOGY OF DYSTONIA [PDF]
, 2011 Dystonia is defined as a motor syndrome characterized by sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures. Dystonia can be present at rest or worsened by action.
Alfredo Berardelli +3 more
core +1 more source
Epilepsia, EarlyView.Abstract This article summarizes data for 13 investigational treatments for which at least preliminary seizure outcome data in patients with epilepsy were reported at the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices held in Madrid, Spain, on May 3–6, 2026.
Meir Bialer +7 more
wiley +1 more source
Epilepsia, EarlyView.Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta +10 more
wiley +1 more source
Patient considerations in the treatment of cervical dystonia: focus on botulinum toxin type A [PDF]
, 2015 Reversa R Mills, Fernando L Pagan Department of Neurology, Movement Disorders and Neurorestoration Division, Georgetown University Hospital, Washington, DC, USA Abstract: Cervical dystonia is the most common form of focal dystonia characterized by
Mills RR, Pagan FL
core
Non-motor symptoms in patients with isolated dystonia: comparison between the age of onset
DystoniaBackground: The etiology and motor presentation differs between pediatric- and adult-onset dystonia. Emerging evidence has demonstrated that non-motor symptoms are frequent in adult dystonia, which affect the quality of life. By contrast, little is known
Yifan Zhou +3 more
doaj +1 more source