Results 171 to 180 of about 1,453,760 (307)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz   +3 more
wiley   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang   +10 more
wiley   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth   +8 more
wiley   +1 more source

Migrant workers' access to medical service providers in Pennsylvania. [PDF]

open access: yesJ Migr Health
Decicco P   +4 more
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao   +6 more
wiley   +1 more source

Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz   +9 more
wiley   +1 more source

ENabling VISions And Growing Expectations (ENVISAGE): Co-development and feasibility of an "integrated" version of ENVISAGE for service providers and parents of children with neurodevelopmental disabilities. [PDF]

open access: yesPilot Feasibility Stud
Soper AK   +14 more
europepmc   +1 more source

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