Results 71 to 80 of about 21,902 (242)

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

The causal relationship between systemic lupus erythematosus and juvenile myoclonic epilepsy: A Mendelian randomization study and mediation analysis

Ibrain, Volume 11, Issue 1, Page 98-105, Spring 2025.
Mendelian randomization (MR) studies were conducted using the inverse‐variance weighted (IVW) method, MR‐Egger and weighted median on juvenile myoclonic epilepsy (JME), and systemic lupus erythematosus (SLE) data from the Integrative Epidemiology Unit (IEU) Open genome‐wide association study (GWAS) database and the International League Against Epilepsy
Sirui Chen, Ningning Zhang, Ruirui Zhang, Lan Zhang, Dadong Luo, Junqiang Li, Yaqing Liu, Yunan Wang, Xinyue Duan, Xin Tian, Tiancheng Wang   +10 more
wiley   +1 more source

Comparative study evaluating efficacy of sufentanil versus midazolam in preventing myoclonic movements following etomidate

Journal of Anaesthesiology Clinical Pharmacology, 2016
Background and Aims: Myoclonus is a major side-effect following etomidate injection requiring use of medical intervention. Material and Methods: In this double-blinded clinical trial, 50 consecutive patients, randomly received sufentanil 0.2 μg/kg or ...
Mohammad Alipour, Masoumeh Tabari, Azadeh Mokhtari Azad   +2 more
doaj   +1 more source

Response to Ng et al. on “Stimulus‐induced arousal with transient electroencephalographic improvement distinguishes nonictal from ictal generalized periodic discharges”

Epilepsia, EarlyView.
Philippe Gélisse, William O. Tatum, Arielle Crespel, Peter W. Kaplan   +3 more
wiley   +1 more source

The Hidden Burden of Hemifacial Spasm: A Systematic Review of Non‐Motor Symptoms

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hemifacial spasm (HFS) is a chronic neurological disorder characterized by involuntary contractions of facial muscles. Traditionally regarded as a motor condition, HFS encompasses a spectrum of non‐motor symptoms that are often overlooked but significantly affect patients’ quality of life.
Miriam Carvalho Soares, Jacy Bezerra Parmera, Pedro Augusto Sampaio Rocha‐Filho   +2 more
wiley   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Deterioration of preexisting myoclonus following nifedipine use in parkinsonian syndrome: A case report

eNeurologicalSci
L-type calcium channel antagonists are uncommon causes of myoclonus, and the underlying mechanism remains unclear. Here, we report a case of parkinsonian syndrome with deterioration of preexisting myoclonus after nifedipine use.
Gohei Yamada, Takanari Toyoda, Eiichi Katada, Noriyuki Matsukawa   +3 more
doaj   +1 more source

Myoclonus in Ataxia-Telangiectasia

Tremor and Other Hyperkinetic Movements, 2015
Background: Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT.
Pichet Termsarasab, Amy C. Yang, Steven J. Frucht   +2 more
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source