ReviewJournal of medical genetics2000
Channelopathies: ion channel defects linked to heritable clinical disorders.
Review in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed.
- Migraine is a dysfunction of neuronal potassium ion channels.Frontiers in neurology · 2025Review
- Informatic challenges and advances in illuminating the druggable proteome.Drug discovery today · 2024Review
- Review
- Article
- Integrated K+ channel and K+Cl- cotransporter functions are required for the coordination of size and proportion during development.Developmental biology · 2019Article
- Xenbase: Facilitating the Use ofFrontiers in physiology · 2019Review
- KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.Nature communications · 2016Article
- High throughput screening technologies for ion channels.Acta pharmacologica Sinica · 2016Review
- Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Journal of neurology, neurosurgery, and psychiatry · 2016Review
- Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2.Human molecular genetics · 2013Article
- Functional ion channels in human pulmonary artery smooth muscle cells: Voltage-dependent cation channels.Pulmonary circulation · 2011Article
- Mapping convulsants' binding to the GABA-A receptor chloride ionophore: a proposed model for channel binding sites.Neurochemistry international · 2007Article
- Calcium channelopathies.Neuromolecular medicine · 2006Review
- Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells.Pflugers Archiv : European journal of physiology · 2005Article
- In vivo analysis of voltage-dependent calcium channels.Journal of bioenergetics and biomembranes · 2003Review
- Insights from mouse models of absence epilepsy into Ca2+ channel physiology and disease etiology.Cellular and molecular neurobiology · 2002Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Electrical signals are critical for the function of neurones, muscle cells, and cardiac myocytes. Proteins that regulate electrical signalling in these cells, including voltage gated ion channels, are logical sites where abnormality might lead to disease. Genetic and biophysical approaches are being used to show that several disorders result from mutations in voltage gated ion channels. Understanding gained from early studies on the pathogenesis of a group of muscle diseases that are similar in their episodic nature (periodic paralysis) showed that these disorders result from mutations in a gene encoding a voltage gated Na(+) channel. Their characterisation as channelopathies has served as a paradigm for other episodic disorders. For example, migraine headache and some forms of epilepsy have been shown to result from mutations in voltage gated Ca(2+) channel genes, while long QT syndrome is known to result from mutations in either K(+) or Na(+) channel genes. This article reviews progress made in the complementary fields of molecular genetics and cellular electrophysiology which has led to a better understanding of voltage gated ion channelopathies in humans and mice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.