Results 141 to 150 of about 26,795 (236)

Essential myoclonus in infancy

, 1970
Essential myoclonus in ...
Mazza, Salvatore
core  

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1691-1695, July 2026.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Spinal myoclonus post-CRT-D implantation: a rare case report of iodinated contrast neurotoxicity. [PDF]

Eur Heart J Case Rep
Nguadi J, Ennmer M, Fagouri J, Bouzelmat H, Chaib A.   +4 more
europepmc   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 1005-1012, July 2026.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Pretreatment with different doses of oliceridine attenuates etomidate-induced myoclonus during painless gastroscopy: a randomized controlled trial. [PDF]

Front Pharmacol
Lin Y, Dai Y, Huang W, Zhang H, Yang B.
europepmc   +1 more source

Improving the clinical trial landscape for patients with atypical variants of Alzheimer's disease: a call to action

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract Patients with atypical variants of Alzheimer's disease (AD) often present at a younger age with predominantly non‐amnestic impairments and a more aggressive disease course. Historically, individuals with atypical presentations have not been included in large‐scale clinical trials, which typically focus on late‐onset, sporadic amnestic ...
Nick Corriveau‐Lecavalier, Neus Falgàs, Deepti Putcha, Jonathan Graff‐Radford, Keir X. X. Yong, Baayla D. C. Boon, Rosaleena Mohanty, Eric Westman, Colin Groot, David T. Jones, Lea T. Grinberg, Gil D. Rabinovici, Jennifer L. Whitwell, Liana G. Apostolova, Melissa E. Murray, Dustin B. Hammers, Suzanne E. Schindler, Inga Atonsdottir, Elizabeth K. Rhodus, Jonathan M. Schott, Ignacio Illán‐Gala, Ogbuagu Chukwuanugo, Jorge J. Llibre Guerra, Ruth Peters, Erin L. Abner, Carla Abdelnour, Albert Lladó, Renaud La Joie, Leonardo Cruz de Souza, Neguine Rezaii, Dror Shir, Yolande A. L. Pijenburg, Maria C. Carrillo, Bradford C Dickerson, Paul Aisen, Rik Ossenkoppele, Rema Raman   +36 more
wiley   +1 more source

Effect of Oliceridine Pretreatment on Etomidate-Induced Myoclonus: A Proof-of-Concept Randomized Trial. [PDF]

Drug Des Devel Ther
Guo M, Duan P, Yang X, M'Djanga Jnr M, Wang T, Bian J, Bo L.   +6 more
europepmc   +1 more source

Pseudohallucination and Pilocytic Astrocytoma in the Pons

Brain and Behavior, Volume 16, Issue 6, June 2026.
In this graphic, we have briefly shown the process of diagnosing the root cause of the patient's psychiatric and psychological disorders and his treatment. The main reason for strengthening the idea that the primary and root cause of the patient's psychological abnormalities was not schizophrenia was that the patient himself occasionally knew that his ...
Ali Mohammadimoshganbar, Bernd Krämer, Memetkuly Kadyrov, Walter Brogiolo   +3 more
wiley   +1 more source

Efficacy and Safety of Adjunctive Perampanel in Young Children (7–46 Months) With Drug‐Resistant Epilepsy: A Real‐World Study

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This real‐world study evaluates adjunctive perampanel (PER) in young children (7–46 months) with drug‐resistant epilepsy. Results show clinically meaningful efficacy, with responder rates of up to 50% in certain syndromes. PER demonstrates a favorable safety profile, supporting its role as an effective treatment option in this age group.
Qiao Zeng, Xueqian Xia, Hao Zheng, Lu Yang, Li Jiang, Yue Hu   +5 more
wiley   +1 more source

Case Report: Recurrent pathogenic mutation c.110G>A in <i>DHDDS</i> gene. [PDF]

Front Neurosci
Liu C, Ye Q, Li J, Bu S, Ge C, Wang X, Quan M, Wang L.   +7 more
europepmc   +1 more source