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dc.contributor.authorJackson, Adam; orcid: 0000-0002-3674-3960; email: adam.jackson-5@postgrad.manchester.ac.uk
dc.contributor.authorBanka, Siddharth; orcid: 0000-0002-8527-2210
dc.contributor.authorStewart, Helen; orcid: 0000-0002-1196-3000
dc.contributor.authorGenomics England Research Consortium
dc.contributor.authorRobinson, Hannah
dc.contributor.authorLovell, Simon
dc.contributor.authorClayton‐Smith, Jill
dc.date.accessioned2021-06-01T14:10:57Z
dc.date.available2021-06-01T14:10:57Z
dc.date.issued2021-06-01
dc.date.submitted2021-01-05
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/624803/ajmg.a.62370.xml?sequence=2
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/624803/ajmg.a.62370.pdf?sequence=3
dc.identifier.citationAmerican Journal of Medical Genetics Part A
dc.identifier.urihttp://hdl.handle.net/10034/624803
dc.descriptionFrom Wiley via Jisc Publications Router
dc.descriptionHistory: received 2021-01-05, rev-recd 2021-03-29, accepted 2021-05-05, pub-electronic 2021-06-01
dc.descriptionArticle version: VoR
dc.descriptionPublication status: Published
dc.descriptionFunder: National Institute for Health Research and NHS England
dc.descriptionFunder: European Union's Horizon 2020 research and innovation program; Grant(s): 779257
dc.description.abstractAbstract: KCNT2 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.languageen
dc.publisherJohn Wiley & Sons, Inc.
dc.rightsLicence for VoR version of this article: http://creativecommons.org/licenses/by/4.0/
dc.sourceissn: 1552-4825
dc.sourceissn: 1552-4833
dc.subjectCLINICAL REPORT
dc.subjectCLINICAL REPORTS
dc.subjectdysmorphism
dc.subjectepileptic encephalopathy
dc.subjectintellectual disability
dc.subjectKCNT2
dc.subjectpotassium channel
dc.subjectsequencing
dc.titleRecurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype
dc.typeother
dc.date.updated2021-06-01T14:10:57Z
dc.date.accepted2021-05-05


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