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List of works by Seiko Ohno

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation

scientific article published in March 2014

A challenge for mutation specific risk stratification in long QT syndrome type 1.

scientific article published on 10 February 2018

A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations

scientific article published on 15 February 2018

A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects

scientific article published on 31 March 2018

An NGS-based genotyping in LQTS; minor genes are no longer minor

scientific article published on 17 July 2020

Association of zygotic piRNAs derived from paternal P elements with hybrid dysgenesis in Drosophila melanogaster

scientific article published on 6 February 2018

Bradycardia is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.

scientific article published on 9 February 2018

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

scientific article published on 01 September 2019

Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11- and 15-year-old sisters

scientific article published on 01 November 2018

Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry

scientific article published on 04 August 2018

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

scientific article

Copy Number Variations of SCN5A in Brugada Syndrome. SCN5A CNVs in BrS.

scientific article published on 21 March 2018

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1　- Modified Schwartz Score

scientific article published on 21 June 2018

Electrical storm in an infant with short-coupled variant of torsade de pointes.

scientific article

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Genetic variants of alcohol-metabolizing enzymes in Brugada syndrome: Insights into syncope after drinking alcohol

scientific article published on 19 August 2019

Home blood pressure variability and subclinical atherosclerosis in multiple vascular beds: a population-based study

scientific article published on 01 November 2018

KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders

scientific article

Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation

scientific article published on 19 February 2018

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

scientific article published on 09 November 2020

Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations.

scientific article

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

scientific article published on 13 September 2016

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