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Title
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Genetic potassium channel-associated epilepsies : clinical review of the family
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Author
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Abstract
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| Next-generation sequencing has enhanced discovery of many disease-associated genes in previously unexplained epilepsies, mainly in developmental and epileptic encephalopathies and familial epilepsies. We now classify these disorders according to the underlying molecular pathways, which encompass a diverse array of cellular and sub-cellular compartments/signalling processes including voltage-gated ion-channel defects. With the aim to develop and increase the use of precision medicine therapies, understanding the pathogenic mechanisms and consequences of disease-causing variants has gained major relevance in clinical care. The super-family of voltage-gated potassium channels is the largest and most diverse family among the ion channels, encompassing approximately 80 genes. Key potassium channelopathies include those affecting the KV, KCa and Kir families, a significant proportion of which have been implicated in neurological disease. As for other ion channel disorders, different pathogenic variants within any individual voltage-gated potassium channel gene tend to affect channel protein function differently, causing heterogeneous clinical phenotypes. The focus of this review is to summarise recent clinical developments regarding the key voltage-gated potassium (KV) family-related epilepsies, which now encompasses approximately 12 established disease-associated genes, from the KCNA-, KCNB-, KCNC-, KCND-, KCNV-, KCNQ- and KCNH-subfamilies. |
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Language
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English
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Source (journal)
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European journal of paediatric neurology. - London
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European journal of paediatric neurology
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Publication
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Oxford
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Elsevier sci ltd
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2020
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ISSN
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1090-3798
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DOI
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10.1016/J.EJPN.2019.12.002
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Volume/pages
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24
(2020)
, p. 105-116
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ISI
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000520610100025
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Pubmed ID
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31932120
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Full text (Publisher's DOI)
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Full text (open access)
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Full text (publisher's version - intranet only)
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