Associated Papers
Gene mutations in comorbidity of epilepsy and arrhythmia.
Yu C et al.
Journal of Neurology, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death.
Soh MS et al.
Epilepsia, 2022
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Coban-Akdemir ZH et al.
American Journal of Medical Genetics. Part A, 2020
Genetic variants in incident SUDEP cases from a community-based prospective cohort with epilepsy.
Ge Y et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
Molecular expression of multiple Nav1.5 splice variants in the frontal lobe of the human brain.
Wang J et al.
International Journal of Molecular Medicine, 2018
Genetic Basis of Sudden Unexpected Death in Epilepsy.
Bagnall RD et al.
Frontiers in Neurology, 2017
Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.
Parisi P et al.
Epilepsy Research, 2013
Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.
Tu E et al.
Brain Pathology (zurich, Switzerland), 2011
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
Le Gal F et al.
Epilepsia, 2010
Cardiac channel molecular autopsy for sudden unexpected death in epilepsy.
Johnson JN et al.
Journal of Child Neurology, 2010
New SCN5A mutation in a SUDEP victim with idiopathic epilepsy.
Aurlien D et al.
Seizure, 2009
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
Berge KE et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2008
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