List of works - Elena Burashnikov

A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype

scientific article

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents

scientific article published on 7 December 2011

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.

scientific article published on 04 January 2014

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry

scientific article

Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome

scientific article

Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome

scientific article published on 09 December 2004

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

scientific article published on 18 August 2005

Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.

scientific article

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect

scientific article published on 05 July 2016

Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation

scientific article

LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current.

scientific article

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

scientific article

Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8

scientific article published on 3 November 2011

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

scientific article

Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction

scientific article

Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2

scientific article published in December 2010

Sudden death associated with short-QT syndrome linked to mutations in HERG.

scientific article

Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations

scientific article

List of works by Elena Burashnikov

A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry

Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome

Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect

Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation

LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current.

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction

Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2

Sudden death associated with short-QT syndrome linked to mutations in HERG.

Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations