Cardiac arrhythmia in a mouse model of sodium channelSCN8Aepileptic encephalopathy

Cardiac sodium channel mutation associated with epinephrine-induced QT prolongation and sinus node dysfunction

(2016) Jiarong Chen et al.   HEART RHYTHM

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

(2016) Natalie Trump et al.   JOURNAL OF MEDICAL GENETICS

Prolongation of Action Potential Duration and QT Interval During Epilepsy Linked to Increased Contribution of Neuronal Sodium Channels to Cardiac Late Na+Current

(2015) Michael Biet et al.   Circulation-Arrhythmia and Electrophysiology

SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability

(2015) Weijing Kong et al.   EPILEPSIA

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

(2015) Maxime G Blanchard et al.   JOURNAL OF MEDICAL GENETICS

Spontaneous seizures in Kcna1 -null mice lacking voltage-gated Kv1.1 channels activate Fos expression in select limbic circuits

(2015) Nicole M. Gautier et al.   JOURNAL OF NEUROCHEMISTRY

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function

(2015) Yan-Ting Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

(2015) Jacy L. Wagnon et al.   Frontiers in Neurology

Late Sodium Current in Human Atrial Cardiomyocytes from Patients in Sinus Rhythm and Atrial Fibrillation

(2015) Claire Poulet et al.   PLoS One

Neuronal Na+ channel blockade suppresses arrhythmogenic diastolic Ca2+ release

(2014) Przemysław B. Radwański et al.   CARDIOVASCULAR RESEARCH

Tubulin polymerization disrupts cardiac β-adrenergic regulation of late INa

(2014) Nataliya Dybkova et al.   CARDIOVASCULAR RESEARCH

Sudden Unexpected Death in Epilepsy: Addressing the Challenges

(2014) W. Henry Smithson et al.   Current Neurology and Neuroscience Reports

Thalamic stimulation to improve level of consciousness after seizures: Evaluation of electrophysiology and behavior

(2014) Abhijeet Gummadavelli et al.   EPILEPSIA

The Kv1.1 null mouse, a model of sudden unexpected death in epilepsy (SUDEP)

(2014) Brian M. Moore et al.   EPILEPSIA

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

(2014) Carolien G.F. de Kovel et al.   EPILEPSY RESEARCH

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

(2014) Jacy L. Wagnon et al.   HUMAN MOLECULAR GENETICS

Contribution of sodium channel neuronal isoform Nav1.1 to late sodium current in ventricular myocytes from failing hearts

(2014) Sudhish Mishra et al.   JOURNAL OF PHYSIOLOGY-LONDON

Scn1bdeletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts

(2014) Xianming Lin et al.   JOURNAL OF PHYSIOLOGY-LONDON

CNS-disease affecting the heart: Brain–heart disorders

(2014) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

(2014) Caroline Nava et al.   NATURE GENETICS

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

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

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

(2014) Mark Estacion et al.   NEUROBIOLOGY OF DISEASE

Hyper-SUMOylation of the Kv7 Potassium Channel Diminishes the M-Current Leading to Seizures and Sudden Death

(2014) Yitao Qi et al.   NEURON

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

(2013) Sara Partemi et al.   EPILEPSIA

Modeling human epilepsy by TALEN targeting of mouse sodium channelScn8a

(2013) Julie M. Jones et al.   GENESIS

Sudden unexpected death in a mouse model of Dravet syndrome

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

Localization of sodium channel subtypes in mouse ventricular myocytes using quantitative immunocytochemistry

(2013) Ruth E. Westenbroek et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Electrical Storm in the Brain and in the Heart: Epilepsy and Brugada Syndrome

(2013) Gabor Sandorfi et al.   MAYO CLINIC PROCEEDINGS

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

Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome

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

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

KCNH2 Gene Mutation: A Potential Link Between Epilepsy and Long QT-2 Syndrome

(2012) José J. Zamorano-León et al.   JOURNAL OF NEUROGENETICS

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

(2011) Emily Tu et al.   BRAIN PATHOLOGY

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

(2011) Masako Sakauchi et al.   EPILEPSIA

Dravet syndrome: The long-term outcome

(2011) Pierre Genton et al.   EPILEPSIA

Combined analysis of risk factors for SUDEP

(2011) Dale C. Hesdorffer et al.   EPILEPSIA

A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart

(2011) Sami F. Noujaim et al.   FASEB JOURNAL

Sudden unexpected death in epilepsy

(2011) Simon Shorvon et al.   LANCET

Cardiac Arrhythmias and Sudden Unexpected Death in Epilepsy (SUDEP)

(2011) POONAM VELAGAPUDI et al.   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

Ca Sparks Do Not Explain all Ryanodine Receptor-Mediated SR Ca Leak in Mouse Ventricular Myocytes

(2010) Demetrio J. Santiago et al.   BIOPHYSICAL JOURNAL

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

(2010) Emily Tu et al.   BRAIN PATHOLOGY

Na+currents are required for efficient excitation-contraction coupling in rabbit ventricular myocytes: a possible contribution of neuronal Na+channels

(2010) Natalia S. Torres et al.   JOURNAL OF PHYSIOLOGY-LONDON

Pathologic cardiac repolarization in pharmacoresistant epilepsy and its potential role in sudden unexpected death in epilepsy: A case-control study

(2009) Rainer Surges et al.   EPILEPSIA

Sudden unexpected death in epilepsy: risk factors and potential pathomechanisms

(2009) Rainer Surges et al.   Nature Reviews Neurology

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

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

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy

(2008) J. N. Johnson et al.   NEUROLOGY