Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotypeCitation formats

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  • Genomics England Research Consortium

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Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype. / Genomics England Research Consortium.

In: American Journal of Medical Genetics. Part A, 01.06.2021.

Research output: Contribution to journalArticlepeer-review

Harvard

Genomics England Research Consortium 2021, 'Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype', American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.62370

APA

Genomics England Research Consortium (2021). Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype. American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.62370

Vancouver

Genomics England Research Consortium. Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype. American Journal of Medical Genetics. Part A. 2021 Jun 1. https://doi.org/10.1002/ajmg.a.62370

Author

Genomics England Research Consortium. / Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype. In: American Journal of Medical Genetics. Part A. 2021.

Bibtex

@article{d0147676ce3d46d983587203a837aeae,
title = "Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype",
abstract = "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.",
author = "{Genomics England Research Consortium} and Adam Jackson and Siddharth Banka and Helen Stewart and Hannah Robinson and Simon Lovell and Jill Clayton-Smith",
note = "{\textcopyright} 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.",
year = "2021",
month = jun,
day = "1",
doi = "10.1002/ajmg.a.62370",
language = "English",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "John Wiley & Sons Ltd",

}

RIS

TY - JOUR

T1 - Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype

AU - Genomics England Research Consortium

AU - Jackson, Adam

AU - Banka, Siddharth

AU - Stewart, Helen

AU - Robinson, Hannah

AU - Lovell, Simon

AU - Clayton-Smith, Jill

N1 - © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

PY - 2021/6/1

Y1 - 2021/6/1

N2 - 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.

AB - 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.

U2 - 10.1002/ajmg.a.62370

DO - 10.1002/ajmg.a.62370

M3 - Article

C2 - 34061450

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

ER -