Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

  1. Gripp, Karen ORCID logo
  2. Smithson, Sarah F.
  3. Scurr, Ingrid J.
  4. Baptista, Julia ORCID logo
  5. Majumdar, Anirban
  6. Pierre, Germaine
  7. Williams, Maggie
  8. Henderson, Lindsay B.
  9. Wentzensen, Ingrid M.
  10. McLaughlin, Heather
  11. Leeuwen, Lisette ORCID logo
  12. Simon, Marleen E. H.
  13. van Binsbergen, Ellen
  14. Dinulos, Mary Beth P.
  15. Kaplan, Julie D.
  16. McRae, Anne
  17. Superti-Furga, Andrea
  18. Good, Jean-Marc
  19. , Kerstin ORCID logo

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WeightNameValue
1000 Titel
  • Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
1000 Autor/in
  1. Gripp, Karen |
  2. Smithson, Sarah F. |
  3. Scurr, Ingrid J. |
  4. Baptista, Julia |
  5. Majumdar, Anirban |
  6. Pierre, Germaine |
  7. Williams, Maggie |
  8. Henderson, Lindsay B. |
  9. Wentzensen, Ingrid M. |
  10. McLaughlin, Heather |
  11. Leeuwen, Lisette |
  12. Simon, Marleen E. H. |
  13. van Binsbergen, Ellen |
  14. Dinulos, Mary Beth P. |
  15. Kaplan, Julie D. |
  16. McRae, Anne |
  17. Superti-Furga, Andrea |
  18. Good, Jean-Marc |
  19. , Kerstin |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-02-16
1000 Erschienen in
1000 Quellenangabe
  • 29(9):1384-1395
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1038/s41431-021-00818-9 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440610/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively, underlies a broad spectrum of human disorders affecting the central nervous system, heart, kidney, and other organs. While the association of epilepsy and intellectual disability (ID) with variants affecting function in genes encoding potassium channels is well known, GOF missense variants in K
1000 Sacherschließung
lokal Abnormalities, Multiple/genetics [MeSH]
lokal Gain of Function Mutation [MeSH]
lokal Abnormalities, Multiple/pathology [MeSH]
lokal Hallux/pathology [MeSH]
lokal Genetics research
lokal Intellectual Disability/pathology [MeSH]
lokal Male [MeSH]
lokal Thumb/abnormalities [MeSH]
lokal Nails, Malformed/genetics [MeSH]
lokal Phenotype [MeSH]
lokal Channelopathies/pathology [MeSH]
lokal Child [MeSH]
lokal Craniofacial Abnormalities/pathology [MeSH]
lokal Adolescent [MeSH]
lokal Female [MeSH]
lokal Fibromatosis, Gingival/pathology [MeSH]
lokal Potassium Channels/genetics [MeSH]
lokal Adult [MeSH]
lokal Humans [MeSH]
lokal Intellectual Disability/genetics [MeSH]
lokal Thumb/pathology [MeSH]
lokal Channelopathies/genetics [MeSH]
lokal Paediatric neurological disorders
lokal Nails, Malformed/pathology [MeSH]
lokal Hand Deformities, Congenital/pathology [MeSH]
lokal Hallux/abnormalities [MeSH]
lokal Small-Conductance Calcium-Activated Potassium Channels/genetics [MeSH]
lokal Article
lokal Ether-A-Go-Go Potassium Channels/genetics [MeSH]
lokal Fibromatosis, Gingival/genetics [MeSH]
lokal Hand Deformities, Congenital/genetics [MeSH]
lokal Craniofacial Abnormalities/genetics [MeSH]
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0001-8200-1733|https://frl.publisso.de/adhoc/uri/U21pdGhzb24sIFNhcmFoIEYu|https://frl.publisso.de/adhoc/uri/U2N1cnIsIEluZ3JpZCBKLg==|https://orcid.org/0000-0003-0915-5028|https://frl.publisso.de/adhoc/uri/TWFqdW1kYXIsIEFuaXJiYW4=|https://frl.publisso.de/adhoc/uri/UGllcnJlLCBHZXJtYWluZQ==|https://frl.publisso.de/adhoc/uri/V2lsbGlhbXMsIE1hZ2dpZQ==|https://frl.publisso.de/adhoc/uri/SGVuZGVyc29uLCBMaW5kc2F5IEIu|https://frl.publisso.de/adhoc/uri/V2VudHplbnNlbiwgSW5ncmlkIE0u|https://frl.publisso.de/adhoc/uri/TWNMYXVnaGxpbiwgSGVhdGhlcg==|https://orcid.org/0000-0002-1105-0455|https://frl.publisso.de/adhoc/uri/U2ltb24sIE1hcmxlZW4gRS4gSC4=|https://frl.publisso.de/adhoc/uri/dmFuIEJpbnNiZXJnZW4sIEVsbGVu|https://frl.publisso.de/adhoc/uri/RGludWxvcywgTWFyeSBCZXRoIFAu|https://frl.publisso.de/adhoc/uri/S2FwbGFuLCBKdWxpZSBELg==|https://frl.publisso.de/adhoc/uri/TWNSYWUsIEFubmU=|https://frl.publisso.de/adhoc/uri/U3VwZXJ0aS1GdXJnYSwgQW5kcmVh|https://frl.publisso.de/adhoc/uri/R29vZCwgSmVhbi1NYXJj|https://orcid.org/0000-0001-8494-8963
1000 Hinweis
  • DeepGreen-ID: 18c12f7d9081473ea5e27ce53304d810 ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
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1000 Erstellt am 2023-04-26T15:44:26.088+0200
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1000 Zuletzt bearbeitet 2023-10-19T13:25:41.730+0200
1000 Objekt bearb. Thu Oct 19 13:25:41 CEST 2023
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