Results 201 to 210 of about 365,728 (264)

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Induced Proprioceptor and Low-Threshold Mechanoreceptor Neurons Derived from Human Pluripotent Stem Cells Exhibit Distinct Functional Mechanosensory Properties. [PDF]

Adv Sci (Weinh)
Hulme AJ, Finol-Urdaneta RK, McArthur JR, Marzano NR, Maksour S, Thind A, Guo Y, Kaul D, Maddock M, Friedrich O, Martinac B, Adams DJ, Dottori M.   +12 more
europepmc   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Diminished immune cell adhesion in hypoimmune ICAM-1 knockout human pluripotent stem cells. [PDF]

Nat Commun
Saha S, Haynes WJ, Seo J, Del Rio NM, Young EE, Zhang J, Holm AM, Pimentel M, Flannagan L, Huang L, Blashka W, Murphy L, Scholz MJ, Henrichs A, Suresh Babu J, Steill J, Kratz J, Stewart R, Kamp TJ, Brown ME.   +19 more
europepmc   +1 more source

A translational multimodal machine‐learning prototype predicting valproate response in epilepsy treatment

Epilepsia, EarlyView.
Abstract Objective Epilepsy affects ~1% of the global population and often requires lifelong antiseizure medication (ASM) therapy. Valproic acid (VPA) is a commonly prescribed first‐line ASM, yet only approximately half of patients achieve sustained seizure freedom. Treatment selection remains largely empirical.
Simeon Platte, Afsheen Kumar, Giorgia Guerini, Massimo Pandolfo, Denise Haslinger, Colin B. Josephson, Guillermo Delgado‐García, Navprabhjot Kaur, Michaela‐Pauline Lux, Heiko Stempfle, Chantal Depondt, Reetta Kälviäinen, Felix Rosenow, Sophie von Brauchitsch, Karl Martin Klein, Andreas G. Chiocchetti   +15 more
wiley   +1 more source

Brain pericytes derived from human pluripotent stem cells retain vascular and phagocytic functions under hypoxia. [PDF]

Stem Cells
Zhang M, Kim Y, Bosworth A, Tcw J, Nih LR, Kisler K, Sagare AP, Rust R.   +7 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

Protocol for differentiating human pluripotent stem cells into midbrain organoids for targeted microinjection of viruses. [PDF]

STAR Protoc
Tao M, Chen Q, Gao W, Wu S, Liu Y.
europepmc   +1 more source

Review of articular cartilage repair techniques and their application in the horse

Equine Veterinary Journal, EarlyView.
Abstract Articular cartilage lesions represent a significant career‐limiting problem in athletic horses. A healthy articular cartilage surface is vital for optimal joint function, and defects can result in irreversible degenerative changes. Successful treatment of cartilage lesions remains a long‐standing challenge for orthopaedic surgeons, prompting ...
Charlotte K. Barton, Brad B. Nelson, Laurie R. Goodrich   +2 more
wiley   +1 more source

Remodeling Cell Adhesion Releases Cardiac Potential of Human Pluripotent Stem Cells with Continuous Proliferation and Accelerated Maturation. [PDF]

Int J Biol Sci
Liu W, Liu C, Wang Q, Li C, Wang J, Shao NY, Chen G.   +6 more
europepmc   +1 more source