Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals 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
Applying the Consolidated Framework for Implementation Research (CFIR) to understand college health administrator perceptions on adopting and implementing opioid overdose education and naloxone distribution (OEND) programs among universities nationally. [PDF]
Harm Reduct JAlexander SP +8 more
europepmc +1 more source
ADMINISTRATIVE AND LEGAL STATUS OF LOCAL STATE ADMINISTRATIONS AND COUNCILS IN THE FIELD OF LABOUR
Entrepreneurship, Economy and Law, 2023 openaire +1 more source
Financing Options for Devolved Government in the UK [PDF]
This study provides a comprehensive overview of the financing options for devolved government in the UK. Starting with a discussion of the present situation, the consequences and the possible future of the Barnett formula, the key economic and political ...
Daniel Hinze, James Gallagher
core
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals 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
Cost effectiveness of the Texas wildlife rabies Border Maintenance Zone. [PDF]
PLoS Negl Trop DisShwiff S +4 more
europepmc +1 more source
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism
Annals 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
The state of local anaesthetic systemic toxicity in 2025: the emergence of lidocaine as our next challenge. [PDF]
Br J AnaesthSchwenk ES, Sneyd JR, Wu CL.
europepmc +1 more source
Annals 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
Evaluation of Surveillance for Suspected Human Exposure to Rabies, Washington State, 2018-2023. [PDF]
Public Health RepParis K, Hamlet A, Lipton B, Oltean H.
europepmc +1 more source