Epilepsies, partial - Open Access .click

Results 181 to 190 of about 3,955,077 (290)

Neurologia (Barcelona, Spain), 1997
Until recently, research in the field of genetics of the epilepsies had mainly focused on the idiopathic generalized epilepsies and the progressive myoclonic epilepsies. Interest in the genetics of the partial epilepsies has now increased due to the identification of several forms of partial epilepsies with a strong genetic component.
openaire +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source

Circulating Exosomes Drive Persistent Neuronal Dysfunction in Post‐Herpetic Neuralgia Patients

Annals of Neurology, EarlyView.
Proposed model of exosome‐mediated neuronal dysfunction in post‐herpetic neuralgia (PHN). (1) Circulating, non‐pathogenic exosomes maintain homeostatic processes in healthy skin, where sensory nerve fibers innervate the epidermis and dermis. (2) During acute zoster, reactivating varicella zoster virus (VZV) travels down neurites to the skin causing ...
Christy S. Niemeyer +14 more
wiley +1 more source

Growth Differentiation Factor 15 as a Cerebrospinal Fluid Biomarker for the Diagnosis and Prognosis of Leptomeningeal Metastasis

Annals of Neurology, EarlyView.
Objective As leptomeningeal metastasis (LM) has a poor prognosis, reliable cerebrospinal fluid (CSF) diagnostic biomarkers are urgently needed. This study evaluated the diagnostic value of CSF growth differentiation factor 15 (GDF15) in LM from lung adenocarcinoma (LUAD) and breast cancer (BC).
Haoyu Ruan +12 more
wiley +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate +34 more
wiley +1 more source

Understanding the Pattern of Cognitive Decline in GBA1‐Related Parkinson's Disease: An Exploratory Longitudinal Multi‐Cohort Study

Annals of Neurology, EarlyView.
Objective People with Parkinson's disease (PD) who carry a pathogenic GBA1 variant (PDGBA1) are at higher risk of cognitive impairment than those without the variant (PDGBA1_wildtype). To date, little is known about the pattern and evolution of cognitive decline in PDGBA1. This multicenter study characterized the cognitive profile of PDGBA, focusing on
Merle Bode +345 more
wiley +1 more source

Memory and Plasma pTau217 Refine Prognosis in Down Syndrome

Annals of Neurology, EarlyView.
Individuals with Down syndrome (DS) are at high risk for Alzheimer's disease (AD), yet accessible tools for routine clinical screening of AD in individuals with DS remain limited. Using data from the Alzheimer Biomarker Consortium‐Down Syndrome (ABC‐DS), we show that integrating plasma pTau217 with performance on the modified cued recall task ...
Casey R. Vanderlip +62 more
wiley +1 more source

Serum Chitotriosidase Links to Activated Glia at Chronic Active Lesion Rims in Multiple Sclerosis Brain

Annals of Neurology, EarlyView.
Objective The objective of this study was to explore the association between 18 kDa translocator protein (TSPO)‐positron emission tomography (PET)–measurable glial activation and serum chitotriosidase (CHIT1) in people with multiple sclerosis (pwMS), and its expression in postmortem MS brain tissue.
Venla Ahola +14 more
wiley +1 more source

Cerebral No‐Reflow after Thrombectomy: International Delphi Consensus on Definition and Imaging Assessment

Annals of Neurology, EarlyView.
Background The operational definition and imaging assessment of the no‐reflow phenomenon, a potential contributor to poor clinical outcome despite successful thrombectomy, remains debated. We aimed to develop expert‐based international consensus on the definition, assessment, and reporting standard of cerebral no‐reflow post‐thrombectomy. Methods Three‐
Adnan Mujanovic +21 more
wiley +1 more source

Astrocyte SMN Restoration and Forskolin Treatment Improve SMA Synaptic Pathology

Annals of Neurology, EarlyView.
Objective Early phenotypic presentation of central afferent synapse dysfunction within patients with spinal muscular atrophy (SMA) represents a key target for therapeutic development; however, the underlying disease mechanisms remain unresolved. By further investigating motor neuron synapse and peri‐synaptic astrocyte process (PAP) defects in human SMA
Emily Welby +6 more
wiley +1 more source

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