"Channelopathies" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS.
Descriptor ID |
D053447
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MeSH Number(s) |
C23.550.177
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Channelopathies".
Below are MeSH descriptors whose meaning is more specific than "Channelopathies".
This graph shows the total number of publications written about "Channelopathies" by people in this website by year, and whether "Channelopathies" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2013 | 0 | 1 | 1 |
2015 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
2021 | 2 | 0 | 2 |
2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Channelopathies" by people in Profiles.
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Genetic pain loss disorders. Nat Rev Dis Primers. 2022 06 16; 8(1):41.
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A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am J Med Genet A. 2022 04; 188(4):1251-1258.
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Developmental HCN channelopathy results in decreased neural progenitor proliferation and microcephaly in mice. Proc Natl Acad Sci U S A. 2021 08 31; 118(35).
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[Neuropathic pain syndromes and channelopathies]. Internist (Berl). 2019 Jan; 60(1):90-97.
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Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet. 2018 Sep; 137(9):753-768.
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[Sensory and autonomic neuropathies and pain-related channelopathies]. Schmerz. 2015 Aug; 29(4):445-57.
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A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet. 2013 Nov; 45(11):1399-404.