Results 191 to 200 of about 11,829 (290)

Contrastive Learning Model for Wearable-Based Ataxia Assessment. [PDF]

IEEE Trans Biomed Eng
Lee J, Oubre B, Daneault JF, Stephen CD, Schmahmann JD, Gupta AS, Lee SI.   +6 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Home Training for Cerebellar Ataxias: A Randomized Clinical Trial. [PDF]

JAMA Neurol
Barbuto S, Lee S, Stein J, Kuo SH, Quinn L, Spinner M, Stern Y.   +6 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches. [PDF]

Mov Disord
Rossi M, Stephen CD, Damásio J, Pedroso JL, Kuo SH, Lin CR, Ojo O, El-Jaafary S, Lee WW, Madoev H, Barsottini OGP, Srivastava AK, Klein C, van de Warrenburg BP.   +13 more
europepmc   +1 more source

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

Epilepsia Open, EarlyView.
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

Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models. [PDF]

Biomedicines
Giacich M, Naef V, Santorelli FM, Damiani D.   +3 more
europepmc   +1 more source

A first in disease trial of the safety, tolerability, and anti‐seizure effects of ES‐481 in drug‐resistant epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives ES‐481 is a novel potent and selective antagonist of TARP‐y8‐dependent AMPA receptors. We aimed to assess the potential efficacy, safety and tolerability, and pharmacokinetics of different doses of ES‐481 as an add‐on anti‐seizure medication (ASM) in adults with drug‐resistant epilepsy (DRE). Methods This was a Phase 2A double‐blind,
Emma C. Foster, Lyn Millist, Jack Germaine, Stephanie Chamorro, Caitlin Roberts, John‐Paul Nicolo, Sean Hosking, Piero Perucca, Saul Mullen, Heather Robinson, Rebecca Wharrie, Brittany Walsh, David Reutens, Kimberley Irwin, Hao Zeng, Robert Niecestro, Terence J. O'Brien   +16 more
wiley   +1 more source

Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjögren Syndrome. [PDF]

Int J Mol Sci
Bellia F, Federici L, Gatta V, Calabrese G, Sallese M.   +4 more
europepmc   +1 more source