Results 131 to 140 of about 21,902 (242)

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

Epilepsia Open, Volume 11, Issue 4, Page 1200-1213, August 2026.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi, Ezio Calò, Maria Teresa Di Claudio, Carmela Pia Ferro, Umberto Costantino, Elio Perrone, Raffaela Rita Latino   +6 more
wiley   +1 more source

Childhood-Onset Myoclonus-Dystonia Due to <i>KCTD17</i> Mutation: A Case Report and Review of Diagnostic Challenges. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Lin Y, Aoh Y, Lu MK.
europepmc   +1 more source

Cannabidiol reduces atypical absence seizures and epileptic spasms in a Gabrb3+/D120N mouse model of Lennox–Gastaut syndrome

Epilepsia Open, Volume 11, Issue 4, Page 1263-1275, August 2026.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a drug‐resistant developmental and epileptic encephalopathy (DEE). Preclinical drug development for LGS is constrained by a lack of syndrome‐relevant animal models. We aimed to evaluate a Gabrb3+/D120N knock‐in (KI) mouse model of LGS by quantifying atypical absence seizures and epileptic spasms and ...
Thomas Harman, Laura A. Sharman, Ka Lai Yip, Miguel Bedoya‐Pérez, Vaishali Janve, Jonathon C. Arnold   +5 more
wiley   +1 more source

Probable Creutzfeldt-Jakob Disease With Negative Cerebrospinal Fluid (CSF) 14-3-3 Protein: Diagnostic Value of Diffusion-Weighted MRI. [PDF]

Cureus
Choukri EM, Bouymajjan A, Boulahcen Z, Ayoub C, Omari Tadlaoui S, Alaoui Rachidi S.   +5 more
europepmc   +1 more source

Smartphone videos for infantile epileptic spasms triaging and assessment (VISTA study): Impact of education and standardized clinical history on diagnostic accuracy

Epilepsia Open, Volume 11, Issue 4, Page 1301-1313, August 2026.
Abstract Objective Diagnostic and treatment delays in infantile epileptic spasms syndrome (IESS) increase the risk of poor neurodevelopmental outcomes. Early clinical recognition of IESS is essential, especially in regions lacking expedited access to electroencephalograms (EEG).
Christine L. Shrock, Margaret C. Savage, Lauren Sham, Christopher Cortina, Kathryn P. Gray, I‐Hsiu Lee, Chahnez C. Triki, Jacqueline French, J. Helen Cross, Orrin Devinsky, Jo M. Wilmshurst, Archana A. Patel   +11 more
wiley   +1 more source

Video-EEG polygraphy in the clinical characterization of hyperkinetic movement disorders: a tertiary referral cohort. [PDF]

Front Neurol
Caputo D, Rasori B, Solazzi R, Canafoglia L, Visani E, Sebastiano DR, Zibordi F, Graziola F, Cantalupo G, Granata T, Zorzi G.   +10 more
europepmc   +1 more source

Multimodel Diffusion MRI Signatures in Atypical Parkinsonian Disorders

Human Brain Mapping, Volume 47, Issue 11, 01 August 2026.
We implemented a diffusion MRI framework to analyze clinically compatible multishell data across 123 participants, including controls, Parkinson's disease (PD), corticobasal syndrome (CBS), and progressive supranuclear palsy Richardson's syndrome (PSP‐RS). Diffusion models included DTI, free‐water elimination (FWE), NODDI, and fixel‐based analysis (FBA)
Yuqi Tian, Farwa Ali, Mary M. Machulda, Val. J. Lowe, Keith A. Josephs, Jennifer L. Whitwell   +5 more
wiley   +1 more source

Effect of ciprofol-etomidate mixtures for deep sedation during gastrointestinal endoscopy: Protocol for a three-arm, double-blind randomized controlled trial. [PDF]

PLoS One
Xu B, Niu M, Zhu X, Cui M, An X, Yu T, Tang S, Yang Q, Wang J, Si J.   +9 more
europepmc   +1 more source

Glucose Transporter 1 in Health and Disease

MedComm, Volume 7, Issue 8, August 2026.
As the quintessential facilitator of basal glucose uptake, glucose transporter 1 (GLUT1) is indispensable for maintaining systemic energy homeostasis. This graphical abstract delineates the multidimensional landscape of GLUT1 in normal physiology. It highlights its tissue‐specific metabolic roles—from fueling erythrocytes and fetal development to ...
Yi Tai, Zhihao Chen, Yuping Zhu, Weidong Han   +3 more
wiley   +1 more source

Cervical spondylosis with propriospinal myoclonus and vocalization: a case report. [PDF]

Front Surg
Peng JH, Liang BW, Zeng XH, Huang ZQ, Zhou SH, Wang YS, Lai CF, Pan CZ.   +7 more
europepmc   +1 more source