Results 131 to 140 of about 131,722 (303)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

Epilepsia, EarlyView.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain, Sunita Vohra, Juan Pablo Diaz Martinez, Elise Heon, Jacob Vorstman, Carolina Gorodetsky, Ajoy Vincent, Jesiqua Rapley, Lori Anderson, Evdokia Anagnostou, Danielle A. Baribeau   +13 more
wiley   +1 more source

Listening across frequencies: Capturing seizures of all patients to advance antiseizure medication development

Epilepsia, EarlyView.
Abstract Seizure frequency has been the primary endpoint in epilepsy trials, with enrollment usually requiring ≥4 seizures per month. This threshold is more and more misaligned with clinical reality, as the availability of more treatment options has reduced baseline seizure burden, with a risk of excluding a proportion of patients from trials. Although
Stéphane Auvin, Jacqueline French
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

A Physiological Role for Amyloid Beta Protein: Enhancement of Learning and Memory [PDF]

, 2008
Amyloid beta protein (A[beta]) is well recognized as having a significant role in the pathogenesis of Alzheimer's disease (AD). The reason for the presence of A[beta] and its physiological role in non-disease states is not clear.
John Morley, Kelvin A. Yamada, Lin Xu, Steven N. Johnson, Susan Farr, William Banks   +5 more
core   +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

Generation of Allogeneic CAR‐T Circumvents Functional Deficits in Patient‐Derived Autologous Product for Glioblastoma

International Journal of Cancer, EarlyView.
Clinical trials of chimeric antigen receptor T‐cell (CAR‐T) therapies in glioblastoma have shown limited clinical benefits. Whether this may be explained by the basal quality of CAR‐T products, which are currently generated using patient, autologous T‐cells, has been little explored.
Sabra K. Salim, Muhammad Vaseem Shaikh, Jeffrey Wei, William T. Maich, Alisha Anand, Oliver Y. Tang, Minomi K. Subapanditha, Zahra Alizada, Yujin Suk, Manoj Singh, Kui Zhai, Aapti Khanna, Benjamin Brakel, Vassil Dimitrov, Zoya Tabunshchyk, Katie Chan, Kevin R. Brown, Parvez Vora, Donald M. O'Rourke, Zev A. Binder, Chitra Venugopal, Jason Moffat, Sheila K. Singh   +22 more
wiley   +1 more source

Alpha‐Synuclein Promotes Anterograde Vesicle Transport in Melanocytes and Melanoma Cells: A Pro‐Survival Function

Journal of the Chinese Chemical Society, EarlyView.
Model for how α‐syn modulates the positioning of endolysosomes in melanoma cells. (a) α‐syn tethers endolysosomes to the plasma membrane, a last step in anterograde transport. (b) Loss of α‐syn expression causes the loss of the tethering function, which leads to perinuclear vesicle clustering. Reproduced from the open access article.
Stephan N. Witt
wiley   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari   +27 more
wiley   +1 more source