Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention

Our epilepsy story: SUDEP Aware

(2014) Tamzin C. Jeffs et al.   EPILEPSIA

Exome analysis–based molecular autopsy in cases of sudden unexplained death in the young

(2014) Richard D. Bagnall et al.   HEART RHYTHM

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

(2014) Dan E Arking et al.   NATURE GENETICS

Mechanisms of sudden unexpected death in epilepsy: the pathway to prevention

(2014) Cory A. Massey et al.   Nature Reviews Neurology

The lifelong course of chronic epilepsy: the Chalfont experience

(2013) Jan Novy et al.   BRAIN

Loss-of-functionKCNH2mutation in a family with long QT syndrome, epilepsy, and sudden death

(2013) Sara Partemi et al.   EPILEPSIA

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile

(2013) Tara L. Klassen et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Effects of age, sex, and sertraline administration on seizure-induced respiratory arrest in the DBA/1 mouse model of sudden unexpected death in epilepsy (SUDEP)

(2013) Carl L. Faingold et al.   EPILEPSY & BEHAVIOR

Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome

(2013) Jason H. Anderson et al.   HEART RHYTHM

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome

(2013) Ikuo Ogiwara et al.   HUMAN MOLECULAR GENETICS

Sudden unexpected death in a mouse model of Dravet syndrome

(2013) Franck Kalume et al.   JOURNAL OF CLINICAL INVESTIGATION

Tau Loss Attenuates Neuronal Network Hyperexcitability in Mouse and Drosophila Genetic Models of Epilepsy

(2013) J. K. Holth et al.   JOURNAL OF NEUROSCIENCE

Coxsackie and Adenovirus Receptor Is a Modifier of Cardiac Conduction and Arrhythmia Vulnerability in the Setting of Myocardial Ischemia

(2013) Roos F.J. Marsman et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

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

(2013) Connie R Bezzina et al.   NATURE GENETICS

Genetic testing for inherited cardiac disease

(2013) Arthur A. M. Wilde et al.   Nature Reviews Cardiology

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

(2013) S. Weckhuysen et al.   NEUROLOGY

HCN channels: Function and clinical implications

(2013) E. E. Benarroch   NEUROLOGY

Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome

(2013) David S. Auerbach et al.   PLoS One

Abnormal neuronal patterning occurs during early postnatal brain development of Scn1b-null mice and precedes hyperexcitability

(2013) W. J. Brackenbury et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sudden unexpected death in epilepsy: Fatal post-ictal respiratory and arousal mechanisms

(2013) Levi P. Sowers et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

(2013) Janelle E. O'Brien et al.   Frontiers in Genetics

QT and P wave dispersion and heart rate variability in patients with Dravet syndrome

(2012) Yakup Ergul et al.   ACTA NEUROLOGICA BELGICA

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

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unexplained sudden death, focussing on genetics and family phenotyping

(2012) Hariharan Raju et al.   CURRENT OPINION IN CARDIOLOGY

A homozygous mutation of voltage-gated sodium channel βIgeneSCN1Bin a patient with Dravet syndrome

(2012) Ikuo Ogiwara et al.   EPILEPSIA

Drug-induced arrhythmia: pharmacogenomic prescribing?

(2012) E. R. Behr et al.   EUROPEAN HEART JOURNAL

Tilt testing is more cost-effective than implantable loop recorder monitoring as a means of directing pacing therapy in people with recurrent episodes of suspected vasovagal syncope that affect their quality of life or present a high risk of injury

(2012) Sarah Davis et al.   HEART

A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1

(2012) Yukako Yoshikane et al.   HEART RHYTHM

Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations

(2012) Jamie Mullally et al.   HEART RHYTHM

Comparative Analytical Utility of DNA Derived from Alternative Human Specimens for Molecular Autopsy and Diagnostics

(2012) Tara L. Klassen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Common Variation in the NOS1AP Gene Is Associated With Drug-Induced QT Prolongation and Ventricular Arrhythmia

(2012) Yalda Jamshidi et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

(2012) David J. Tester et al.   MAYO CLINIC PROCEEDINGS

Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

(2012) C. S. Cheah et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Analysis of Hyperpolarization-Activated Cyclic Nucleotide-Gated Cation Channels in Sudden Unexpected Death in Epilepsy Cases

(2011) Emily Tu et al.   BRAIN PATHOLOGY

Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures

(2011) Dagmar I. Keller et al.   CANADIAN JOURNAL OF CARDIOLOGY

Genetic Testing for Potentially Lethal, Highly Treatable Inherited Cardiomyopathies/Channelopathies in Clinical Practice

(2011) David J. Tester et al.   CIRCULATION

A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes

(2011) Stefan Kääb et al.   Circulation-Cardiovascular Genetics

Towards an integrated view of HCN channel role in epilepsy

(2011) Yoav Noam et al.   CURRENT OPINION IN NEUROBIOLOGY

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome

(2011) Masako Sakauchi et al.   EPILEPSIA

The serotonin axis: Shared mechanisms in seizures, depression, and SUDEP

(2011) George B. Richerson et al.   EPILEPSIA

Electrical and autonomic cardiac function in patients with Dravet syndrome

(2011) Angelica B. Delogu et al.   EPILEPSIA

Dravet syndrome: The long-term outcome

(2011) Pierre Genton et al.   EPILEPSIA

Dravet syndrome and parent associations: The IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief

(2011) Joan V. Skluzacek et al.   EPILEPSIA

Prevention of seizure-induced sudden death in a chronic SUDEP model by semichronic administration of a selective serotonin reuptake inhibitor

(2011) Carl L. Faingold et al.   EPILEPSY & BEHAVIOR

Sudden death and ion channel disease: pathophysiology and implications for management

(2011) R. Bastiaenen et al.   HEART

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

Key role of the molecular autopsy in sudden unexpected death

(2011) Christopher Semsarian et al.   HEART RHYTHM

Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals

(2011) Dan E. Arking et al.   PLoS Genetics

Post-Mortem Review and Genetic Analysis of Sudden Unexpected Death in Epilepsy (SUDEP) Cases

(2010) Emily Tu et al.   BRAIN PATHOLOGY

Serotonin reuptake inhibitors are associated with reduced severity of ictal hypoxemia in medically refractory partial epilepsy

(2010) Lisa M. Bateman et al.   EPILEPSIA

Cardiac Channel Molecular Autopsy for Sudden Unexpected Death in Epilepsy

(2010) Jonathan N. Johnson et al.   JOURNAL OF CHILD NEUROLOGY

Kv1.1 Potassium Channel Deficiency Reveals Brain-Driven Cardiac Dysfunction as a Candidate Mechanism for Sudden Unexplained Death in Epilepsy

(2010) E. Glasscock et al.   JOURNAL OF NEUROSCIENCE

Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction

(2010) Connie R Bezzina et al.   NATURE GENETICS

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

(2010) Nicole A. Hawkins et al.   NEUROBIOLOGY OF DISEASE

Systematic Assessment of Patients With Unexplained Cardiac Arrest

(2009) Andrew D. Krahn et al.   CIRCULATION

Genetic Variations in Nitric Oxide Synthase 1 Adaptor Protein Are Associated With Sudden Cardiac Death in US White Community-Based Populations

(2009) W.H. Linda Kao et al.   CIRCULATION

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome

(2009) Lia Crotti et al.   CIRCULATION

Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?

(2009) Sarah E. Heron et al.   EPILEPSIA

Abnormal serotonin receptor expression in DBA/2 mice associated with susceptibility to sudden death due to respiratory arrest

(2009) Victor V. Uteshev et al.   EPILEPSY RESEARCH

The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales

(2009) M. Papadakis et al.   EUROPACE

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Transgenic Mice Lacking Serotonin Neurons Have Severe Apnea and High Mortality during Development

(2009) M. R. Hodges et al.   JOURNAL OF NEUROSCIENCE

Arrhythmia in Heart and Brain: KCNQ1 Mutations Link Epilepsy and Sudden Unexplained Death

(2009) A. M. Goldman et al.   Science Translational Medicine

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

(2008) Neeti Hindocha et al.   EPILEPSIA

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families

(2008) Elijah R. Behr et al.   EUROPEAN HEART JOURNAL

New SCN5A mutation in a SUDEP victim with idiopathic epilepsy

(2008) Dag Aurlien et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Cardiac Sodium Channel Gene Variants and Sudden Cardiac Death in Women

(2007) Christine M. Albert et al.   CIRCULATION