Results 91 to 100 of about 256,495 (250)

Phenotypes of Dravet Syndrome

Pediatric Neurology Briefs, 2016
Researchers from the University of Washington in Seattle studied selective heterozygous and homozygous deletions of the voltage gated sodium channel (Nav1.1) in parvalbumin (PV) or somato-statin (SST) expressing interneurons.
Rebecca Garcia-Sosa, Linda C. Laux
doaj   +1 more source

A Cation-π Interaction Discriminates among Sodium Channels That Are Either Sensitive or Resistant to Tetrodotoxin Block [PDF]

, 2007
Voltage-gated sodium channels control the upstroke of the action potential in excitable cells of nerve and muscle tissue, making them ideal targets for exogenous toxins that aim to squelch electrical excitability.
Ahern, Christopher A., Dougherty, Dennis A., Eastwood, Amy L., Horn, Richard, Santarelli, Vincent P.   +4 more
core   +2 more sources

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, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Differences in Sodium Channel Densities in the Apical Dendrites of Pyramidal Cells of the Electrosensory Lateral Line Lobe

Frontiers in Neural Circuits, 2019
Heterogeneity of neural properties within a given neural class is ubiquitous in the nervous system and permits different sub-classes of neurons to specialize for specific purposes.
Sree I. Motipally, Kathryne M. Allen, Daniel K. Williamson, Gary Marsat   +3 more
doaj   +1 more source

Structure of a bacterial voltage-gated sodium channel pore reveals mechanisms of opening and closing [PDF]

, 2012
Voltage-gated sodium channels are vital membrane proteins essential for electrical signalling; in humans, they are key targets for the development of pharmaceutical drugs. Here we report the crystal structure of an open-channel conformation of NavMs, the
A Lampert, A Vagin, AJ McCoy, AM Powl, AM Waterhouse, AO O’Reilly, D Ren, D Shaya, DA Doyle, DP Klose, E Blanc, EC McCusker, GM Clayton, IH van Stokkum, J Payandeh, JD Thompson, JG Lees, JG Lees, K Charalambous, K Irie, L Whitmore, M Petrek, M Strong, NA Baker, P Emsley, R Koishi, RA Laskowski, RM Keegan, SB Long, VB Chen, W Kabsch, W Kabsch, Y Zhao, Y Zhao   +33 more
core   +2 more sources

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease–Causing Mutation

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundHuman induced pluripotent stem cell–derived cardiomyocytes (hiPSC‐CMs) can recapitulate features of ion channel mutations causing inherited rhythm disease.
Christiaan C. Veerman, Isabella Mengarelli, Elisabeth M. Lodder, Georgios Kosmidis, Milena Bellin, Miao Zhang, Sven Dittmann, Kaomei Guan, Arthur A. M. Wilde, Eric Schulze‐Bahr, Boris Greber, Connie R. Bezzina, Arie O. Verkerk   +12 more
doaj   +1 more source

Strategies for studying permeation at voltage-gated ion channels [PDF]

, 1991
Voltage-dependent ion channels are presently thought to consist of several distinct functional regions: (a) activation gates, (b) inactivation gates, and permeation pathways.
Lester, Henry A.
core   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin   +88 more
wiley   +1 more source

Voltage-gated sodium channels: new targets in cancer therapy? [PDF]

, 2006
Early detection and treatment of cancers have increased survival and improved clinical outcome. The development of metastases is often associated with a poor prognostic of survival. Finding early markers of metastasis and developing new therapies against
Besson, Pierre, Le Guennec, Jean-Yves, Potier, Marie, Roger, Sébastien, Vandier, Christophe   +4 more
core   +2 more sources