相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Sudden unexpected death in a mouse model of Dravet syndrome
Franck Kalume et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
Visual Automated Fluorescence Electrophoresis Provides Simultaneous Quality, Quantity, and Molecular Weight Spectra for Genomic DNA from Archived Neonatal Blood Spots
Tara L. Klassen et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2013)
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
Krishna R. Veeramah et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
Rachel Soemedi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Transcompartmental reversal of single fibre hyperexcitability in juxtaparanodal Kv1.1-deficient vagus nerve axons by activation of nodal KCNQ channels
Edward Glasscock et al.
JOURNAL OF PHYSIOLOGY-LONDON (2012)
Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome
Christine S. Cheah et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
Tara Klassen et al.
CELL (2011)
Borderline Dravet syndrome: A useful diagnostic category?
Renzo Guerrini et al.
EPILEPSIA (2011)
Electrical and autonomic cardiac function in patients with Dravet syndrome
Angelica B. Delogu et al.
EPILEPSIA (2011)
Genetics of sudden death: focus on inherited channelopathies
Marina Cerrone et al.
EUROPEAN HEART JOURNAL (2011)
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation
Francois Le Gal et al.
EPILEPSIA (2010)
Kv1.1 Potassium Channel Deficiency Reveals Brain-Driven Cardiac Dysfunction as a Candidate Mechanism for Sudden Unexplained Death in Epilepsy
Edward Glasscock et al.
JOURNAL OF NEUROSCIENCE (2010)
Long-Term Mortality in Childhood-Onset Epilepsy.
Matti Sillanpaa et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Sudden unexpected death in epilepsy: risk factors and potential pathomechanisms
Rainer Surges et al.
NATURE REVIEWS NEUROLOGY (2009)
Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy
J. N. Johnson et al.
NEUROLOGY (2009)
Arrhythmia in Heart and Brain: KCNQ1 Mutations Link Epilepsy and Sudden Unexplained Death
A. M. Goldman et al.
SCIENCE TRANSLATIONAL MEDICINE (2009)
Two cases of sudden unexpected death in epilepsy in a GEFS plus family with an SCN1A mutation
Neeti Hindocha et al.
EPILEPSIA (2008)
Heterogeneous Gene Expression and Functional Activity of Ryanodine Receptors in Resistance and Conduit Pulmonary as well as Mesenteric Artery Smooth Muscle Cells
Yun-Min Zheng et al.
JOURNAL OF VASCULAR RESEARCH (2008)
The spectrum of SCNIA-related infantile epileptic encephalopathies
Louise A. Harkin et al.
BRAIN (2007)
Truncation of the Shaker-like voltage-gated potassium channel, Kv1.1, causes megencephaly
S Petersson et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2003)
Ion channels and epilepsy
H Lerche et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
N Tiso et al.
HUMAN MOLECULAR GENETICS (2001)