Seiko Ohno

Novel KCNH2 and SLC4A3 variants in short QT syndrome: Clinical phenotypes and antiarrhythmic drug response.

Journal: HeartRhythm case reports

Published: April 24, 2026

Phenotypic Severity of SCN5A-Related Bradycardia Is Independent of Dominant-Negative and Coupled Gating Effects.

Journal: Circulation. Arrhythmia and electrophysiology

Published: January 26, 2026

Ventricular conduction is a marker for arrhythmic risk in SCN5A-E1784K overlap sodium channel disease.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Published: December 30, 2025

Detection rate of pathogenic variants by postmortem genetic testing for sudden cardiac death among children and young adults: systematic review and meta-analysis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 09, 2025

A diagnostic challenge of advanced-stage cardiac Fabry disease without left ventricular hypertrophy: a case report.

Journal: European heart journal. Case reports

Published: October 31, 2025

A Genome-Wide Association Study Reveals Desmoglein-2 Predominance in Japanese Arrhythmogenic Cardiomyopathy.

Journal: Journal of arrhythmia

Published: October 22, 2025

Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome　- Insights Into Splice Error Correction.

Journal: Circulation journal : official journal of the Japanese Circulation Society

Published: October 19, 2025

Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.

Journal: Circulation journal : official journal of the Japanese Circulation Society

Published: October 05, 2025

Long-Term Arrhythmic Outcomes of KCNJ2 Variant Carriers in Japan.

Journal: Circulation. Genomic and precision medicine

Published: September 30, 2025

Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders.

Journal: Journal of human genetics

Published: September 17, 2025

Biventricular Dysfunction in Knock-in Mice With Dsg2 Variants Specific for Japanese Arrhythmogenic Right Ventricular Cardiomyopathy.

Journal: Circulation journal : official journal of the Japanese Circulation Society

Published: August 31, 2025

Congenital Short QT Syndrome　- Review Focused on KCNQ1 p.Val141Met Variant.

Journal: Circulation journal : official journal of the Japanese Circulation Society

Published: May 14, 2025

Novel KCNH2 and SLC4A3 variants in short QT syndrome: Clinical phenotypes and antiarrhythmic drug response.

Novel KCNH2 and SLC4A3 variants in short QT syndrome: Clinical phenotypes and antiarrhythmic drug response.

Phenotypic Severity of SCN5A-Related Bradycardia Is Independent of Dominant-Negative and Coupled Gating Effects.

Phenotypic Severity of SCN5A-Related Bradycardia Is Independent of Dominant-Negative and Coupled Gating Effects.

Ventricular conduction is a marker for arrhythmic risk in SCN5A-E1784K overlap sodium channel disease.

Ventricular conduction is a marker for arrhythmic risk in SCN5A-E1784K overlap sodium channel disease.

Detection rate of pathogenic variants by postmortem genetic testing for sudden cardiac death among children and young adults: systematic review and meta-analysis.

Detection rate of pathogenic variants by postmortem genetic testing for sudden cardiac death among children and young adults: systematic review and meta-analysis.

A diagnostic challenge of advanced-stage cardiac Fabry disease without left ventricular hypertrophy: a case report.

A diagnostic challenge of advanced-stage cardiac Fabry disease without left ventricular hypertrophy: a case report.

A Genome-Wide Association Study Reveals Desmoglein-2 Predominance in Japanese Arrhythmogenic Cardiomyopathy.

A Genome-Wide Association Study Reveals Desmoglein-2 Predominance in Japanese Arrhythmogenic Cardiomyopathy.

Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome - Insights Into Splice Error Correction.

Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome - Insights Into Splice Error Correction.

Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.

Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.

Long-Term Arrhythmic Outcomes of KCNJ2 Variant Carriers in Japan.

Long-Term Arrhythmic Outcomes of KCNJ2 Variant Carriers in Japan.

Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders.

Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders.

Biventricular Dysfunction in Knock-in Mice With Dsg2 Variants Specific for Japanese Arrhythmogenic Right Ventricular Cardiomyopathy.

Biventricular Dysfunction in Knock-in Mice With Dsg2 Variants Specific for Japanese Arrhythmogenic Right Ventricular Cardiomyopathy.

Congenital Short QT Syndrome - Review Focused on KCNQ1 p.Val141Met Variant.

Congenital Short QT Syndrome - Review Focused on KCNQ1 p.Val141Met Variant.

Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome　- Insights Into Splice Error Correction.

Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome　- Insights Into Splice Error Correction.

Congenital Short QT Syndrome　- Review Focused on KCNQ1 p.Val141Met Variant.

Congenital Short QT Syndrome　- Review Focused on KCNQ1 p.Val141Met Variant.