Sodium channels and the neurobiology of epilepsy

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

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

The genetics of Dravet syndrome

(2011) Carla Marini et al.   EPILEPSIA

Cross-Species Conservation of Open-Channel Block by Na Channel  4 Peptides Reveals Structural Features Required for Resurgent Na Current

(2011) A. H. Lewis et al.   JOURNAL OF NEUROSCIENCE

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

First Node of Ranvier Facilitates High-Frequency Burst Encoding

(2011) Maarten H.P. Kole   NEURON

Na+ Channel ? Subunits: Overachievers of the Ion Channel Family

(2011) William J. Brackenbury et al.   Frontiers in Pharmacology

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

(2010) Yunxiang Liao et al.   BRAIN

SCN9A: another sodium channel excited to play a role in human epilepsies

(2010) CN Doty   CLINICAL GENETICS

Epileptogenic ion channel mutations: From bedside to bench and, hopefully, back again

(2010) Massimo Mantegazza et al.   EPILEPSY RESEARCH

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

Altered Function of theSCN1AVoltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities

(2010) Melinda S. Martin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

NaV1.1 channels and epilepsy

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

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

(2010) Miriam H. Meisler et al.   JOURNAL OF PHYSIOLOGY-LONDON

Axon initial segment dysfunction in epilepsy

(2010) Verena C. Wimmer et al.   JOURNAL OF PHYSIOLOGY-LONDON

Electrophysiology and beyond: Multiple roles of Na+ channel β subunits in development and disease

(2010) Gustavo A. Patino et al.   NEUROSCIENCE LETTERS

Molecular Identity of Dendritic Voltage-Gated Sodium Channels

(2010) A. Lorincz et al.   SCIENCE

Multi-locus models of genetic risk of disease

(2010) Naomi R Wray et al.   Genome Medicine

Prediction by Modeling That Epilepsy May Be Caused by Very Small Functional Changes in Ion Channels

(2009) Evan A. Thomas et al.   ARCHIVES OF NEUROLOGY

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

(2009) Ingrid E. Scheffer et al.   BRAIN & DEVELOPMENT

ParentalSCN1Amutation mosaicism in familial Dravet syndrome

(2009) KK Selmer et al.   CLINICAL GENETICS

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

(2009) Ligia A. Papale et al.   HUMAN MOLECULAR GENETICS

A Novel Inherited Mutation in the Voltage Sensor Region of SCN1A Is Associated With Panayiotopoulos Syndrome in Siblings and Generalized Epilepsy With Febrile Seizures Plus

(2009) John H. Livingston et al.   JOURNAL OF CHILD NEUROLOGY

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

(2009) S. E. Heron 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

Regulation of Persistent Na Current by Interactions between   Subunits of Voltage-Gated Na Channels

(2009) T. K. Aman et al.   JOURNAL OF NEUROSCIENCE

Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation

(2009) Wenqin Hu et al.   NATURE NEUROSCIENCE

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

(2009) Bin Tang et al.   NEUROBIOLOGY OF DISEASE

De novo mutations of voltage-gated sodium channel  II gene SCN2A in intractable epilepsies

(2009) I. Ogiwara et al.   NEUROLOGY

Differential expression of exon 5 splice variants of sodium channel α subunit mRNAs in the developing mouse brain

(2009) E.V. Gazina et al.   NEUROSCIENCE

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

How do mutant Nav1.1 sodium channels cause epilepsy?

(2008) David S. Ragsdale   BRAIN RESEARCH REVIEWS

Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases

(2008) W. A. Catterall et al.   JOURNAL OF NEUROSCIENCE

Functional properties and differential neuromodulation of Nav1.6 channels

(2008) Yuan Chen et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Nav1.1 is predominantly expressed in nodes of Ranvier and axon initial segments

(2008) Amandine Duflocq et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Novel mRNA isoforms of the sodium channels Nav1.2, Nav1.3 and Nav1.7 encode predicted two-domain, truncated proteins

(2008) N.C.H. Kerr et al.   NEUROSCIENCE

Mechanisms of human inherited epilepsies

(2008) Christopher A. Reid et al.   PROGRESS IN NEUROBIOLOGY