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Thursday, July 23, 2020 | History

3 edition of Channelopathies (Advances in Molecular and Cell Biology) found in the catalog.

Channelopathies (Advances in Molecular and Cell Biology)

Frank Lehmann Horn

Channelopathies (Advances in Molecular and Cell Biology)

by Frank Lehmann Horn

  • 249 Want to read
  • 19 Currently reading

Published by Jai Pr .
Written in English

    Subjects:
  • Cellular biology,
  • Mathematics and Science,
  • Molecular biology,
  • Life Sciences - Biology - Molecular Biology,
  • Life Sciences - Cytology,
  • Science,
  • Science/Mathematics

  • The Physical Object
    FormatHardcover
    ID Numbers
    Open LibraryOL10908700M
    ISBN 100762306238
    ISBN 109780762306237
    OCLC/WorldCa228296796

      Neurological channelopathies in a snapshot. Although the term ‘channelopathy’ was coined less than 20 years ago, inherited mutations of ion channels are now recognised to affect a wide range of organs and to represent a substantial disease burden. The “Hot Topic Keynotes: Channelopathies” session of the 26thInternational Neurotoxicology Conference brought together toxicologists studying interactions of environmental toxicants with ion channels, to review the state of the science of channelopathies and to discuss the potential for interactions between environmental exposures and channelopathies.

    Chapter 8 of the book – Channelopathies. Ion channels are specialised transmembrane proteins that are essential for controlling electrical signalling and neurotransmitter release throughout the nervous system. When comorbid neurological or behavioural disorders affect an individual, the explanation may be found in a single ion channel. A channelopathy is the result of a mutation(s) in the gene encoding the channel, producing changes in channel properties sufficient to produce clinical symptoms. These changes are generally.

      Often overlooked are channelopathies such as the short 3, 4 or long QT and Brugada syndromes, in which mutations in the gene (SCN5A) encoding the alpha subunit of the cardiac sodium channel (NaV) are known to be involved. 5 Brugada syndrome is an inherited cardiac disorder predisposing to ventricular arrhythmias 6 with characteristic ECG. Inherited arrhythmias are defined; genetic mechanisms of channelopathies are presented, and a glossary on the terms used in genetics is provided. Public users are able to search the site and view the abstracts for each book and chapter without a subscription. Please subscribe or .


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Channelopathies (Advances in Molecular and Cell Biology) by Frank Lehmann Horn Download PDF EPUB FB2

Richard Bertram, Richard L. Hyson, in Reference Module in Biomedical Sciences, Channelopathies. Channelopathies are diseases related to dysfunctions of ion channels (Kullmann and Waxman, ).These can be congenital, typically due to a genetic mutation in an ion channel gene, or acquired, such as due to an autoimmune attack on a specific type of ion channel.

This book describes human hereditary ion channel diseases of voltage- and ligand-gated Channelopathies book channels covering the diverse fields of medicine myology, neurology, cardiology, and nephrology requiring a wide and interdisciplinary readership.

This book describes human hereditary ion channel diseases of voltage- and ligand-gated ion channels covering the diverse fields of medicine myology, neurology, cardiology, and nephrology requiring a. Table of Contents * A unique reference focusing on the rapidly developing field of channelopathies of common neurological disorders * Written specifically for the clinical neurologist and neuroscientist * It reviews the underlying scientific principles of ion channel function and the current research and its clinical applicationsPages: Ion Channels and Disease: Channelopathies (Quantitative Finance) eBook: Ashcroft, Frances M.: : Kindle Store/5(3).

A unique reference focusing on the rapidly developing field of channelopathies of common neurological disorders Written specifically for the clinical neurologist and neuroscientist It. channelopathy A popular term for a heterogeneous group of conditions caused by structural (due to mutations) or functional (acquired, e.g., autoimmune) defects in ion channels or their regulatory proteins.

Examples Cystic fibrosis, Dent’s disease, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada.

Cardiac channelopathies are an emerging set of congenital or acquired genetic disorders manifesting with disruption of cardiac ion channel function leading to altered electrical function and predisposition to dysrhythmia and sudden death. From: Cardiovascular Pathology (Fourth Edition), Related terms: Brugada Syndrome.

The book is organized in three parts: part I treats the molecular and electrophysiological mechanisms of function and dysfunction of ion channels, part II focuses on genetics and clinical findings, whereas part III describes novel research techniques, the use of stem cells and animal models and provides an outlook on future investigations and applications.

Muscle Channelopathies. Muscle channelopathies are a group of nondystrophic myopathies which are caused by mutations that result in malfunction of the muscle ionic channels. Depending on the type of the channel involved, they may manifest with myotonia, paramyotonia, periodic paralysis, or MH [,].

The symptoms of channelopathies can vary widely depending on what part of the body is affected. In the nervous system, it might result in muscle paralysis, muscle twitching or muscle stiffness. People with channelopathies that affect the heart can experience seizures, an abnormal heart rhythm and other symptoms.

This book describes human hereditary ion channel diseases of voltage- and ligand-gated ion channels covering the diverse fields of medicine myology, neurology, cardiology, and nephrology requiring a wide and interdisciplinary readership.

Genetics. BrS is a channelopathy with an autosomal-dominant pattern of inheritance. The first genetic alteration associated with BrS was identified in the SCN5A gene encoding the α-subunit of the cardiac sodium channel, Nav [].Since then, more than pathogenic variants have been identified in 24 genes encoding sodium, potassium, and calcium channels or associated proteins.

Congenital long QT syndrome (LQTS) comprises a distinct group of cardiac channelopathies characterized by delayed repolarization of the myocardium, QT prolongation and increased risk of syncope, seizures and sudden cardiac death in the setting of a structurally normal heart and otherwise healthy person (Figure 1).

This repolarization abnormality usually is without consequence. This book describes human hereditary ion channel diseases of voltage- and ligand-gated ion channels covering the diverse fields of medicine myology, neurology, cardiology, and nephrology requiring a wide and interdisciplinary : $ Ion channelopathies are a group of rare something to keep you occupied, like a book or tablet to watch TV on as there will be time between tests and meetings.

We have a limited amount of toys, so please bring some fun things to do for any children attending the clinic. Channelopathy definition is - any of various disorders (such as epilepsy, migraine, cystic fibrosis, heart arrhythmia, and myotonia) caused by the malfunction of an ion channel.

How to use channelopathy in a sentence. Channelopathies. Channelopathies are a group of cardiac conditions that display defects in ion channel and transporter function.

Most conditions are due to inherited mutations that disrupt ion channel biophysical properties. However, other defects arise from disruptions in ion channel membrane trafficking and post-translational modifications [].

The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies.

Home Books Hurst's The Heart, 14e. The term cardiac channelopathies refers to a group of genetic diseases in which the primary dysfunction is an abnormal electrophysiologic substrate creating susceptibility to arrhythmias in the context of a substantially normal cardiac structure.

Neurological channelopathies in a snapshot. Although the term ‘channelopathy’ was coined less than 20 years ago, inherited mutations of ion channels are now recognised to affect a wide range of organs and to represent a substantial disease burden.

An increasing number of neurological channelopathies have been identified and.neurological channelopathies are subdivided on the basis of channel type.

Table 2 is a list of genetic neurological channelopathies according to ion type. Most ion channels have a similar basic structure. All voltage gated ion channels have a large pore forming subunit.

6. Skeletal myopathies caused by channelopathies 7. Endocrine disorders caused by channelopathies 8. Emerging roles of CaCC channels in health and disease 9. New roles for ion channels in neuropsychiatric disorders Pharmacology and pathophysiology of calcium channels Inherited cardiac arrhythmias Ion channels and diabetes