Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype-Reference-Cited by-同舟云学术

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

Published:2021-06 Issue:10 Volume:185 Page:3083-3091
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Jackson Adam¹^ORCID,Banka Siddharth¹²^ORCID,Stewart Helen³^ORCID,Robinson Hannah⁴,Lovell Simon⁵,Clayton‐Smith Jill¹²,

Affiliation:

1. Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester Manchester UK

2. Manchester Centre for Genomic Medicine St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester Manchester UK

3. Department of Clinical Genetics Oxford Centre for Genomic Medicine, Oxford Radcliffe Hospitals NHS Trust, Nuffield Orthopaedic Hospital Oxford UK

4. Department of Peninsula Clinical Genetics Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust Exeter UK

5. Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester Manchester UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62370

Reference38 articles.

1. New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review;Alagoz M.;Acta Biochimica Polonica,2020

2. De novo gain‐of‐function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy

3. KATP channels and islet hormone secretion: new insights and controversies

4. Epilepsy with migrating focal seizures

5. Slick (Slo2.1), a Rapidly-Gating Sodium-Activated Potassium Channel Inhibited by ATP

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Potassium channel‐related epilepsy: Pathogenesis and clinical features;Epilepsia Open;2024-04

2. Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review;Frontiers in Genetics;2024-03-06

3. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt;The American Journal of Human Genetics;2024-03

4. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder;The American Journal of Human Genetics;2023-06