Fainting goat
Rüdel, R (2000). "Muscle chloride channelopathies: myotonia congenita". In Lehmann-Horn, Frank; Jurkat-Rott, Karin (eds.). ... Rüdel, R (2000). "Muscle chloride channelopathies: myotonia congenita". In Lehmann-Horn, Frank; Jurkat-Rott, Karin (eds.). ... Channelopathies. Burlington: Elsevier. pp. 44-46. ISBN 9780080528854. Breed data sheet: Myotonic / United States of America ( ... Channelopathies. Burlington: Elsevier. pp. 44-46. ISBN 9780080528854. "On the Sacred Disease", trans. Francis Adams, in ...
Channelopathy
... are the most common cause of channelopathies. Acquired channelopathies are caused by acquired disorders, drug use, toxins, etc ... Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These ... Channelopathies can be categorized based on the organ system which they are associated with. In the cardiovascular system, the ... Channelopathies affecting synaptic function are a type of synaptopathy. Mutations in genes encoding ion channels, which cause ...
Myotonia
Other channelopathies may cause it as well. It is also associated with Schwartz-Jampel syndrome. Hyperekplexia Neuromuscular ... Kim, June-Bum (January 2014). "Channelopathies". Korean Journal of Pediatrics. 57 (1): 1-18. doi:10.3345/kjp.2014.57.1.1. ISSN ... Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, ... Vicart, S.; Sternberg, D.; Fontaine, B.; Meola, G. (1 October 2005). "Human skeletal muscle sodium channelopathies". ...
Dimitri Kullmann
Kullmann, Dimitri M. (2010). "Neurological channelopathies". Annual Review of Neuroscience. 33: 151-172. doi:10.1146/annurev- ... neurological channelopathies and Synaptopathies, gene therapy for epilepsy, and mechanisms of neural oscillations. Kullmann ...
Calcium release activated channel
Feske S (July 2010). "CRAC channelopathies". Pflügers Archiv. 460 (2): 417-35. doi:10.1007/s00424-009-0777-5. PMC 2885504. PMID ...
Heart
... cardiac ion channelopathies form a major group of heart diseases. Cardiac ion channelopathies may explain some of the cases of ... Skinner JR, Winbo A, Abrams D, Vohra J, Wilde AA (January 2019). "Channelopathies That Lead to Sudden Cardiac Death: Clinical ... Marbán, Eduardo (10 January 2002). "Cardiac channelopathies". Nature. 415 (6868): 213-218. Bibcode:2002Natur.415..213M. doi: ... Marban, Eduardo (1 July 2003). "Cardiac Channelopathies". Heart Views. 4 (3): 4. ISSN 1995-705X. ...
Chloride channel
Planells-Cases R, Jentsch TJ (March 2009). "Chloride channelopathies" (PDF). Biochimica et Biophysica Acta (BBA) - Molecular ...
Thyrotoxic periodic paralysis
The concept of channelopathies and the link with specific ion channel mutations emerged at the end of the 20th century. Kung AW ... TPP is regarded as a model for related conditions, known as "channelopathies", which have been linked with mutations in ion ... Ryan DP, Ptácek LJ (October 2010). "Episodic neurological channelopathies". Neuron. 68 (2): 282-92. doi:10.1016/j.neuron. ...
Vejocalcin
Ryanodine receptor channelopathies. Biochem. Biophys. Res. Commun. 322:1280-1285. PMID 15336975 DOI: 10.1016/j.bbrc.2004.08.033 ... particularly for the treatment of RyR channelopathies. Xiao, Liang; Gurrola, Georgina B.; Zhang, Jing; Martin, Mario San; ...
Paramyotonia congenita
Vicart S, Sternberg D, Fontaine B, Meola G (2005). "Human skeletal muscle sodium channelopathies". Neurol Sci. 26 (4): 194-202 ... Cannon S (2006). "Pathomechanisms in channelopathies of skeletal muscle and brain". Annu Rev Neurosci. 29: 387-415. doi:10.1146 ... Channelopathies, Myoneural junction and neuromuscular diseases, Rare diseases). ...
Patch-sequencing
Vaeth, Martin; Feske, Stefan (2018-06-01). "Ion channelopathies of the immune system". Current Opinion in Immunology. 52: 39-50 ... Meisler, Miriam H.; Hill, Sophie F.; Yu, Wenxi (March 2021). "Sodium channelopathies in neurodevelopmental disorders". Nature ... "Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances". Biology. 6 (1): 7. doi:10.3390/biology6010007 ...
SIDS
Behere SP, Weindling SN (2014). "Inherited arrhythmias: The cardiac channelopathies". Annals of Pediatric Cardiology. 8 (3): ... of SIDS cases are believed to be due to channelopathies, which are inherited defects in the ion channels which play an ...
Hyperkalemic periodic paralysis
Jurkat-Rott K, Lehmann-Horn F (August 2005). "Muscle channelopathies and critical points in functional and genetic studies". J ... Cannon, Stephen C. (2018). "Sodium Channelopathies of Skeletal Muscle". Voltage-gated Sodium Channels: Structure, Function and ... Channelopathies. Handbook of Experimental Pharmacology. Springer International Publishing. 246: 309-330. doi:10.1007/164_2017_ ...
Romano-Ward syndrome
Demirbilek H, Galcheva S, Vuralli D, Al-Khawaga S, Hussain K (May 2019). "Ion Transporters, Channelopathies, and Glucose ... Channelopathies, Autosomal dominant disorders, Syndromes affecting the heart). ...
Gyrification
... to channelopathies (sodium channels, "SCN3A"). Patients with autism have overall higher levels of cortical gyrification, but ...
Irritable bowel syndrome
Beyder A, Farrugia G (October 2016). "Ion channelopathies in functional GI disorders". Am J Physiol Gastrointest Liver Physiol ... Channelopathy and muscular dystrophy: IBS and functional GI diseases are comorbidities of genetic channelopathies that cause ... Beyder A, Farrugia G (2016). "Ion channelopathies in functional GI disorders". American Journal of Physiology. Gastrointestinal ...
Fowler's syndrome
K, Jurkat-Rott; H, Lerche; N, Mitrovic; F, Lehmann-Horn (September 1999). "Teaching Course: Ion Channelopathies in Neurology". ...
Nav1.8
Waxman SG (July 2013). "Painful Na-channelopathies: an expanding universe". Trends in Molecular Medicine. 19 (7): 406-9. doi: ...
Inward-rectifier potassium channel
Abraham MR, Jahangir A, Alekseev AE, Terzic A (November 1999). "Channelopathies of inwardly rectifying potassium channels". ...
Ion channel
Genetic and autoimmune disorders of ion channels and their modifiers are known as channelopathies. See Category:Channelopathies ...
Catecholaminergic polymorphic ventricular tachycardia
Venetucci L, Denegri M, Napolitano C, Priori SG (October 2012). "Inherited calcium channelopathies in the pathophysiology of ... Obeyesekere MN, Antzelevitch C, Krahn AD (February 2015). "Management of ventricular arrhythmias in suspected channelopathies ...
Anti-VGKC-complex encephalitis
Vincent A (2008). "Autoimmune channelopathies: John Newsom-Davis's work and legacy. A summary of the Newsom-Davis Memorial ...
Stephanie Schorge
Schorge, Stephanie (2018-02-14). "Channelopathies go above and beyond the channels" (PDF). Neuropharmacology. 132: 1-2. doi: ...
Sodium channel
Function and Channelopathies. Handbook of Experimental Pharmacology. Vol. 246. pp. 147-160. doi:10.1007/164_2018_99. ISBN 978-3 ... channelopathies) in patients with irritable bowel syndrome". Gastroenterology. 146 (7): 1659-1668. doi:10.1053/j.gastro.2014.02 ...
FKBP1B
"Inherited calcium channelopathies in the pathophysiology of arrhythmias". Nature Reviews. Cardiology. 9 (10): 561-575. doi: ...
Channelome
In addition, channelomic studies screen potential drugs for their effectiveness at channelopathies, by examining the binding ... Membrane biology, Ion channels, Channelopathies, Electrophysiology, Integral membrane proteins). ...
Leducq Foundation
"Towards Precision Medicine with Human iPSCs for Cardiac Channelopathies". Circulation Research. 125 (6): 653-658. doi:10.1161/ ...
P-type calcium channel
Mutation studies allow experimenters to study genetically inherited channelopathies. A channelopathy is any disease that ...
Posterior column ataxia-retinitis pigmentosa syndrome
Channelopathies, Blindness, Disorders of choroid and retina, Autosomal recessive disorders). ...
Nav1.4
Jurkat-Rott K, Lehmann-Horn F (August 2005). "Muscle channelopathies and critical points in functional and genetic studies". ...