Results 11 to 20 of about 11,955 (223)

Calcium channelopathies [PDF]

Kidney International, 2000
Calcium is an important intracellular signaling molecule, and altered calcium channel function can cause widespread cellular changes. Genetic mutations in calcium channels that cause what appear to be trivial alterations of calcium currents in vitro can result in serious diseases in muscles and the nervous system.
Lorenzon, Nancy M., Beam, Kurt G.
openaire   +4 more sources

Neurological Channelopathies

Annual Review of Neuroscience, 2010
Inherited ion channel mutations can affect the entire nervous system. Many cause paroxysmal disturbances of brain, spinal cord, peripheral nerve or skeletal muscle function, with normal neurological development and function in between attacks. To fully understand how mutations of ion channel genes cause disease, we need to know the normal location and
Dimitri M. Kullmann
openaire   +3 more sources

Therapeutic approaches to genetic ion channelopathies and perspectives in drug discovery [PDF]

Frontiers in Pharmacology, 2016
In the human genome more than 400 genes encode ion channels, which are transmembrane proteins mediating ion fluxes across membranes. Being expressed in all cell types, they are involved in almost all physiological processes, including sense perception ...
Paola eImbrici, Antonella eLiantonio, Giulia Maria eCamerino, Michela eDe Bellis, Claudia eCamerino, Antonietta eMele, Arcangela eGiustino, Sabata ePierno, Annamaria eDe Luca, Domenico eTricarico, Jean-Francois eDesaphy, Diana eConte   +11 more
doaj   +2 more sources

Autoimmune Channelopathies at Neuromuscular Junction [PDF]

Frontiers in Neurology, 2019
The neuromuscular junction, also called myoneural junction, is a site of chemical communication between a nerve fiber and a muscle cell. There are many types of channels at neuromuscular junction that play indispensable roles in neuromuscular signal ...
Kun Huang, Kun Huang, Yue-Bei Luo, Huan Yang   +3 more
doaj   +2 more sources

Sex-Related Differences in Cardiac Channelopathies: Implications for Clinical Practice. [PDF]

, 2021
Sex-related differences in prevalence, clinical presentation, and outcome of cardiac channelopathies are increasingly recognized, despite their autosomal transmission and hence equal genetic predisposition among sexes.
Ben-Haim, Yael, Medeiros-Domingo, Argelia, Crotti, L, Andrew D., Krahn, Remme, CA, Ben-Haim, Y, Tanner, Hildegard, Servatius, Helge, Krahn, Andrew D., Dobner, S, Roten, L, Skinner, Jonathan R., Skinner, JR, Crotti, Lia, Servatius, H, Behr, Elijah R., Yee, L, Reichlin, T, Chevalier, P, Reichlin, Tobias, Asatryan, Babken, Remme, Carol Ann, Dobner, Stephan, Odening, KE, Roten, Laurent, Tanner, H, Asatryan, B, Behr, ER, Yee, Lauren, Odening, Katja E., Medeiros-Domingo, A, Krahn, AD, Chevalier, Philippe   +32 more
core   +3 more sources

Neurological channelopathies [PDF]

Postgraduate Medical Journal, 2005
Abstract Ion channels are membrane-bound proteins that perform key functions in virtually all human cells. Such channels are critically important for the normal function of the excitable tissues of the nervous system, such as muscle and brain.
T D, Graves, M G, Hanna
openaire   +2 more sources

Vulnerability of Human Cerebellar Neurons to Degeneration in Ataxia-Causing Channelopathies

Frontiers in Systems Neuroscience, 2022
Mutations in ion channel genes underlie a number of human neurological diseases. Historically, human mutations in ion channel genes, the so-called channelopathies, have been identified to cause episodic disorders.
David D. Bushart, Vikram G. Shakkottai
doaj   +1 more source

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4.
Maria‐Christina Kotta, Margherita Torchio, Pauline Bayliss, Marta C. Cohen, Oliver Quarrell, Nigel Wheeldon, Tamás Marton, Davide Gentilini, Lia Crotti, Robert C. Coombs, Peter J. Schwartz   +10 more
doaj   +1 more source

Interview with Zining Liu, recipient of the 2026 Epilepsia Open Prize for Basic Science Research. [PDF]

Epilepsia Open
Epilepsia Open, EarlyView.
Kokaia M, Perucca P.
europepmc   +2 more sources

Towards Zebrafish Models of CNS Channelopathies [PDF]

, 2022
Channelopathies are a large group of systemic disorders whose pathogenesis is associated with dysfunctional ion channels. Aberrant transmembrane transport of K+, Na+, Ca2+ and Cl− by these channels in the brain induces central nervous system (CNS ...
Demin, K. A., Zabegalov, K. N., Kolesnikova, Tatiana O., Fabiano V. Costa, Konstantin N. Zabegalov, Kolesnikova, T. O., Allan V. Kalueff, Elena V. Gerasimova, Gerasimova, E. V., Demin, Konstantin A., Kalueff, A. V., Tatiana O. Kolesnikova, Konstantin A. Demin, Murilo S. de Abreu, Costa, Fabiano V., Zabegalov, Konstantin N., de Abreu, Murilo S., Gerasimova, Elena V., Kalueff, Allan V., Costa, F. V., de Abreu, M. S.   +20 more
core   +1 more source