Genotype phenotype associations across the voltage-gated sodium channel family

Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy

(2014) Jianying Huang et al.   BRAIN

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

The More, the Better: Modeling Dravet Syndrome With Induced Pluripotent Stem Cell-Derived Neurons

(2014) Jennifer Kearney   Epilepsy Currents

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

(2013) Yu Liu et al.   ANNALS OF NEUROLOGY

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

Novel SCN3A variants associated with focal epilepsy in children

(2013) Carlos G. Vanoye et al.   NEUROBIOLOGY OF DISEASE

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

Painful Na-channelopathies: an expanding universe

(2013) Stephen G. Waxman   TRENDS IN MOLECULAR MEDICINE

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

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

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

Gain-of-function Nav1.8 mutations in painful neuropathy

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

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

(2011) Catharina G. Faber et al.   ANNALS OF NEUROLOGY

Clinical spectrum of SCN2A mutations

(2011) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Sodium Channel

(2011) Arthur A.M. Wilde et al.   CIRCULATION RESEARCH

Key role of the molecular autopsy in sudden unexpected death

(2011) Christopher Semsarian et al.   HEART RHYTHM

Mechanisms underlying a life-threatening skeletal muscle Na+channel disorder

(2011) Dina Simkin et al.   JOURNAL OF PHYSIOLOGY-LONDON

SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism

(2011) William P. McNair et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genotype-phenotype associations in SCN1A-related epilepsies

(2011) S. M. Zuberi et al.   NEUROLOGY

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

(2010) Yunxiang Liao et al.   BRAIN

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

(2010) Emily Tu et al.   BRAIN PATHOLOGY

A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons

(2010) Mark Estacion et al.   EXPERIMENTAL NEUROLOGY

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy

(2010) Sang-Chan Lee et al.   Journal of Clinical Neurology

Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations

(2010) Stanislav Sokolov et al.   JOURNAL OF GENERAL PHYSIOLOGY

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: A new treatable disorder

(2010) L. Lion-Francois et al.   NEUROLOGY

Sodium channelopathies of skeletal muscle result from gain or loss of function

(2010) Karin Jurkat-Rott et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Sodium channelopathies and pain

(2010) Angelika Lampert et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Early- and late-onset inherited erythromelalgia: genotype–phenotype correlation

(2009) Chongyang Han et al.   BRAIN

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

(2009) Vincent Probst et al.   Circulation-Cardiovascular Genetics

TheSCN1Avariant database: a novel research and diagnostic tool

(2009) Lieve RF Claes et al.   HUMAN MUTATION

Genetic Modulation of Brugada Syndrome by a Common Polymorphism

(2009) ERIC LIZOTTE et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

(2009) K Kanai et al.   JOURNAL OF MEDICAL GENETICS

A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

(2009) G. A. Patino et al.   JOURNAL OF NEUROSCIENCE

Homozygosity for dominant mutations increases severity of muscle channelopathies

(2009) Marianne Arzel-hézode et al.   MUSCLE & NERVE

Cardiac sodium channelopathies

(2009) Ahmad S. Amin et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Cardiac Sodium Channel ( SCN5A ) Variants Associated with Atrial Fibrillation

(2008) Dawood Darbar et al.   CIRCULATION

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures

(2008) Sunita N. Misra et al.   EPILEPSIA

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

(2008) Paola G. Meregalli et al.   HEART RHYTHM

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

(2008) Katherine D. Holland et al.   NEUROSCIENCE LETTERS