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dc.contributor.authorJackson, Adam
dc.contributor.authorBanka, Siddharth
dc.contributor.authorStewart, Helen
dc.contributor.authorRobinson, Hannah
dc.contributor.authorLovell, Simon
dc.contributor.authorClayton-Smith, Jill
dc.date.accessioned2021-10-01T13:38:52Z
dc.date.available2021-10-01T13:38:52Z
dc.date.issued2021-06-01
dc.identifier.citationJackson, A. et al. (2021) ‘Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.’, American journal of medical genetics. Part A. doi: 10.1002/ajmg.a.62370.
dc.identifier.pmid34061450
dc.identifier.doi10.1002/ajmg.a.62370
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/622123
dc.description.abstractKCNT2 variants resulting in substitutions affecting the Arg190 residue have been shown to cause epileptic encephalopathy and a recognizable facial gestalt. We report two additional individuals with intellectual disability, dysmorphic features, hypertrichosis, macrocephaly and the same de novo KCNT2 missense variants affecting the Arg190 residue as previously described. Notably, neither patient has epilepsy. Homology modeling of these missense variants revealed that they are likely to disrupt the stabilization of a closed channel conformation of KCNT2 resulting in a constitutively open state. This is the first report of pathogenic variants in KCNT2 causing a developmental phenotype without epilepsy.
dc.language.isoeng
dc.publisherWiley
dc.relation.urlhttps://doi.org/10.1002/ajmg.a.62370
dc.rights© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/
dc.subjectdysmorphism
dc.subjectintellectual disability
dc.subjectepileptic encephalopathy
dc.subjectKCNT2
dc.subjectpotassium channel
dc.subjectsequencing
dc.titleRecurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype
dc.typeJournal Article
dc.identifier.journalAmerican journal of medical genetics. Part A
dc.description.noteThe article is available via Open Access. Click on the 'Additional link' above to access the full-text.
dc.type.versionPublished
dc.description.admin-notePublished version, accepted version (12 month embargo)


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© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
Except where otherwise noted, this item's license is described as © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.