Results 161 to 170 of about 13,348 (285)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Ranking of antiseizure medications in a panel of focal seizure models predicts their comparative efficacy in clinical add‐on trials in drug‐resistant focal epilepsy

Epilepsia, EarlyView.
Abstract Objective Most antiseizure medications (ASMs) have been discovered by testing in animal models, which are generally thought to predict antiseizure activity in patients. However, it is not known whether any of these models (or a combination of models) can predict whether a novel ASM exhibits higher clinical efficacy in focal drug‐resistant ...
Wolfgang Löscher, Pavel Klein
wiley   +1 more source

Tensile properties of sheet-based triply periodic minimal surface lattices fabricated using vat polymerization. [PDF]

Sci Rep
Baghous N, Abraham MA, Mogos NT, Al-Rub RKA.   +3 more
europepmc   +1 more source

”Not always the magic bullet”—Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic dietary therapies (KDTs) are the treatment of choice for Glut1 Deficiency Syndrome (Glut1DS), providing dietary ketones as an alternative fuel to the brain and effectively controlling seizures. Recent evidence indicates insufficient seizure control in Glut1DS patients despite adequate KDT and ketosis.
Joerg Klepper, Eva Runkel, Lucia Kiesel
wiley   +1 more source

Recent Developments in Novel TPMS Lattice Materials: Design Optimization, Performance Control, and Applications in Biomimetic Scaffolds. [PDF]

Materials (Basel)
Ahmad SZ, Masood MH, Khattab MU, Ahmad SS, Zaidi SAA, Khan SZ.   +5 more
europepmc   +1 more source

Practical consensus recommendations for polytherapy involving stiripentol in Dravet syndrome: A nominal group approach

Epilepsia Open, EarlyView.
Abstract Objectives Dravet syndrome (DS) is a drug‐resistant developmental and epileptic encephalopathy, often requiring three or more antiseizure medications (ASMs). Consequently, the therapeutic landscape is highly complex, combining DS‐specific agents (stiripentol, STP; cannabidiol, CBD; fenfluramine, FFA), non‐specific ASMs, and non‐pharmacologic ...
J. Helen Cross, Rima Nabbout, Barry Gidal, Joseph Sullivan, Elaine Wirrell   +4 more
wiley   +1 more source

Approximate analytical prediction on elastic properties of Diamond structures with varying porosities and orientations. [PDF]

Front Bioeng Biotechnol
Wang H, Lyu Y, Jiang J, Zhao F, Bosiakov S, Zhu H.   +5 more
europepmc   +1 more source

Hypoxia Induces a Mitotic Survival Advantage After Radiotherapy in Head and Neck Cancer Cells

International Journal of Cancer, EarlyView.
Hypoxic tumor environments significantly limit radiotherapy effectiveness against cancer, particularly in head and neck squamous cell carcinoma (HNSCC). Here, the authors tracked hypoxic and post‐hypoxic cells using a hypoxia‐fate mapping system in human papillomavirus (HPV)‐positive and HPV‐negative HNSCC models.
Marilyn Wegge, Rüveyda Dok, Ludwig J. Dubois, Sandra Nuyts   +3 more
wiley   +1 more source

Non-muscle tropomyosins inhibit myosin-19 and dynamically localize to mitochondrially associated actin filaments. [PDF]

J Biol Chem
Thompson CP, Pollard LW, Xu M, Holzbaur ELF, Ostap EM.   +4 more
europepmc   +1 more source

MUC1 as a Survival Effector of Radiotherapy‐Induced Epithelial Hybrid States in Basal‐Like Breast Cancer

International Journal of Cancer, EarlyView.
Basal‐like breast cancer (BLBC) is aggressive and often exhibits inherent or acquired resistance to radiotherapy (RT), a primary treatment option. RT resistance is underpinned by molecular alterations, many of which are poorly understood. Here, RT‐induced transcriptomic changes were analyzed using bulk and spatial sequencing in a BLBC mouse model and ...
Garyfallia Pantelaiou‐Prokaki, Husam Bamahmoud, Nadine S. Georges, Shaishavi Jansari, Annika Jung, Daniela Grimm, Evangelos Prokakis, Fabian Alexander Gayer, Maryam Deldar, Christian Dullin, Julia Gallwas, Florian Wegwitz, Frauke Alves   +12 more
wiley   +1 more source