Results 81 to 90 of about 16,843 (240)

Andersen-Tawil Syndrome [PDF]

, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Fish, Frank A, Kannankeril, Prince J, Smith, Andrew H   +2 more
core   +2 more sources

International Veterinary Epilepsy Task Force consensus report on epilepsy definition, classification and terminology in companion animals [PDF]

, 2015
Dogs with epilepsy are among the commonest neurological patients in veterinary practice and therefore have historically attracted much attention with regard to definitions, clinical approach and management. A number of classification proposals for canine
A Jaggy, A Jaggy, A Oberbauer, A Pákozdy, Akos Pakozdy, AL Nielen, AM Oberbauer, Andrea Fischer, Andrea Tipold, AT Berg, AT Berg, BG Licht, BG Licht, CH Gulløv, CL Mariani, Clare Rusbridge, E Beghi, Edward E. Patterson, EE Patterson, EE Patterson, EH Seppala, EH Seppala, H Lohi, HA Volk, Heidrun Potschka, Holger A. Volk, I Kathmann, J Kloene, Jacques Penderis, Karen Muñana, Kaspar Matiasek, KJ Ekenstedt, L Heske, L Kearsley-Fleet, Luisa De Risio, M Berendt, M Berendt, M Berendt, M Berendt, M Podell, Martí Batlle Pumarola, Mette Berendt, Michael Podell, ML Casal, P Srenk, Paul J. J. Mandigers, Robyn G. Farquhar, RS Fisher, RS Fisher, S Shorvon, Sam Long, SD Shorvon, Simon Platt, Sofie F. M. Bhatti, T Morita, TR Famula, TS Jokinen, V Hülsmeyer, Veronika M. Stein, W Stassen, WT Blume, Y Chang, Y Heynold   +62 more
core   +9 more sources

Efficacy of a K+ Channel Agonist, XEN1101, For Preserving Contractility in Mouse Models of Hypokalemic Periodic Paralysis

Muscle &Nerve, EarlyView.
Pretreatment with an agonist of Kv7 potassium channels (XEN1101) protects the soleus muscle from a loss of force during a 2 mM K+ challenge, in a mouse model of hypokalemic periodic paralysis. ABSTRACT Introduction/Aims Effective management remains lacking for recurrent episodes of acute weakness in hypokalemic periodic paralysis (HypoPP).
Viktor Chanchykov, Sharon Iype, Marbella Quinonez, Fenfen Wu, Stephen Cannon   +4 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundPhenotypic overlap of type 3 long QT syndrome (LQT3), Brugada syndrome (BrS), cardiac conduction disease (CCD), and sinus node dysfunction (SND) is observed with SCN5A mutations.
Christian Veltmann, Hector Barajas‐Martinez, Christian Wolpert, Martin Borggrefe, Rainer Schimpf, Ryan Pfeiffer, Gabriel Cáceres, Elena Burashnikov, Charles Antzelevitch, Dan Hu   +9 more
doaj   +1 more source

Genomic organization and chromosomal localization of the murine 2 P domain potassium channel gene Kcnk8: conservation of gene structure in 2 P domain potassium channels. [PDF]

, 2000
A 2 P domain potassium channel expressed in eye, lung, and stomach, Kcnk8, has recently been identified. To initiate further biochemical and genetic studies of this channel, we assembled the murine Kcnk8 cDNA sequence, characterized the genomic structure
Bockenhauer, D, Gallagher, PG, Goldstein, SA, Nimmakayalu, MA, Ward, DC   +4 more
core   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Voltage- and Temperature-Dependent Allosteric Modulation of α7 Nicotinic Receptors by PNU120596 [PDF]

, 2017
This is the final version of the article. Available from Frontiers Media via the DOI in this record.Alpha7 nicotinic acetylcholine receptors (α7 nAChR) are widely distributed throughout the central nervous system and are found at particularly high levels
Brown, JT, Dunlop, J, Randall, AD, Sitzia, F   +3 more
core   +1 more source

From mechanism to phenotype: What fits in a basket trial

Epilepsia, EarlyView.
Kette D. Valente
wiley   +1 more source

Population‐Based Study Found Low Risk of Misdiagnosing Long QT Syndrome as Breath‐Holding Spells in Swedish Children

Acta Paediatrica, EarlyView.
ABSTRACT Aim An electrocardiogram is commonly recommended in breath‐holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath‐holding spells in a paediatric population in southern Sweden.
Sanna Hellström Schmidt, Ida Jeremiasen, Erik A. Eklund, Cornelis Jan Pronk   +3 more
wiley   +1 more source