The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

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Genetic, Molecular and Cellular Mechanisms Underlying the J Wave Syndromes

(2012) Charles Antzelevitch   CIRCULATION JOURNAL

A KCNJ8 mutation associated with early repolarization and atrial fibrillation

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

(2011) Hector Barajas-Martínez et al.   HEART RHYTHM

Gender Differences in the ST Segment

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Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

(2010) Argelia Medeiros-Domingo et al.   HEART RHYTHM

The genome-wide structure of the Jewish people

(2010) Doron M. Behar et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

J wave syndromes

(2009) Charles Antzelevitch et al.   HEART RHYTHM

Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATPChannel

(2008) MICHEL HAÏSSAGUERRE et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Augmentation of J Waves and Electrical Storms in Patients with Early Repolarization

(2008) Gi-Byoung Nam et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sudden Cardiac Arrest Associated with Early Repolarization

(2008) Michel Haïssaguerre et al.   NEW ENGLAND JOURNAL OF MEDICINE

Discerning the Ancestry of European Americans in Genetic Association Studies

(2008) Alkes L. Price et al.   PLoS Genetics