Results 51 to 60 of about 8,128 (220)

Recent findings in cranial and cervical dystonia: how they help us to understand the pathophysiology of dystonia.

, 2006
Focal dystonia is a hyperkinetic movement disorder confined to a single body district. The most common forms are cranial and cervical dystonia.
S. Bagnato, Antonio Currà, Alfredo Berardelli, CURRA', antonio, Sergio Bagnato, BERARDELLI, Alfredo   +5 more
core   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

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, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source

A comparison of jaw-closing and jaw-opening idiopathic oromandibular dystonia

, 2006
Oromandibular dystonia (OMD) is a form of focal dystonia that affects masticatory, lower facial, and lingual muscles. We compared the clinical variables and response to treatment between patients with idiopathic jaw-closure C-OMD ( n=11) and jaw-opening ...
Singer, Carlos, Papapetropoulos, Spiridon   +1 more
core   +1 more source

Clinical Spectrum of Focal Dystonia in Patients at Tertiary Care Hospital in Karachi: A Cross-Sectional Study

Journal of University College of Medicine and Dentistry
Objective: To describe the clinical patterns and types of focal dystonia among patients presenting to the neurology department of a tertiary care hospital in Karachi. Methodology: This descriptive cross-sectional study was undertaken at Dr. Ruth K. M.
Rabiya Khan, Qamar-Un-Nisa, Sidra Jazil Faruqi, Sumera Rafat Umer, Rabia Iqbal, Wajid Jawaid   +5 more
doaj   +1 more source

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, Bernard Liem, Sidra Aurangzeb, Mkael Symmonds, Adam E. Handel, Sarosh R. Irani, Arjune Sen   +6 more
wiley   +1 more source

Case Report: GPi DBS for Non-parkinsonian Midline Tremor: A Normative Connectomic Comparison to a Failed Thalamic DBS

Frontiers in Human Neuroscience, 2021
Introduction: The clinical efficacy of deep brain stimulation (DBS) for midline tremor has been heterogenous. Here, we present an atypical case with facial and palatal tremor treated with DBS.
Takashi Morishita, Yuki Sakai, Takayasu Mishima, George Umemoto, Michael S. Okun, Saori C. Tanaka, Yoshio Tsuboi, Tooru Inoue   +7 more
doaj   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Psychogenic facial movement disorders: Clinical features and associated conditions [PDF]

, 2012
The facial phenotype of psychogenic movement disorders has not been fully characterized. Seven tertiary-referral movement disorders centers using a standardized data collection on a computerized database performed a retrospective chart review of ...
Lang, Anthony E, Duker, Andrew P, Espay, Alberto J, Fasano, Alfonso, Tarsy, Daniel, Munhoz, Renato P, Morgante, Francesca, Girlanda, Paolo, Bentivoglio, Anna Rita, Bhatia, Kailash P, Prashanth, LK, Valadas, Anabela   +11 more
core   +1 more source

Neurodevelopmental disorder with dystonia due to SOX6 mutations

Molecular Genetics & Genomic Medicine, 2022
Background Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digital skeletal abnormalities. To date, T.
Susanne A. Schneider, Christine Mueller, Saskia Biskup, Urban M. Fietzek, Andreas Sebastian Schroeder   +4 more
doaj   +1 more source