Related references
Note: Only part of the references are listed.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)
Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
Tara Klassen et al.
CELL (2011)
Cross-Species Conservation of Open-Channel Block by Na Channel β4 Peptides Reveals Structural Features Required for Resurgent Na Current
Amanda H. Lewis et al.
JOURNAL OF NEUROSCIENCE (2011)
De novo SCN1A mutations in migrating partial seizures of infancy
D. Carranza Rojo et al.
NEUROLOGY (2011)
First Node of Ranvier Facilitates High-Frequency Burst Encoding
Maarten H. P. Kole
NEURON (2011)
Na+ channel beta subunits: overachievers of the ion channel family
William J. Brackenbury et al.
FRONTIERS IN PHARMACOLOGY (2011)
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
Yunxiang Liao et al.
BRAIN (2010)
SCN9A: another sodium channel excited to play a role in human epilepsies
CN Doty
CLINICAL GENETICS (2010)
Epileptogenic ion channel mutations: From bedside to bench and, hopefully, back again
Massimo Mantegazza et al.
EPILEPSY RESEARCH (2010)
A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons
Mark Estacion et al.
EXPERIMENTAL NEUROLOGY (2010)
Altered Function of the SCN1A Voltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities
Melinda S. Martin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
Sarah E. Heron et al.
JOURNAL OF MEDICAL GENETICS (2010)
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
Christel Depienne et al.
JOURNAL OF MEDICAL GENETICS (2010)
NaV1.1 channels and epilepsy
William A. Catterall et al.
JOURNAL OF PHYSIOLOGY-LONDON (2010)
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
Miriam H. Meisler et al.
JOURNAL OF PHYSIOLOGY-LONDON (2010)
Axon initial segment dysfunction in epilepsy
Verena C. Wimmer et al.
JOURNAL OF PHYSIOLOGY-LONDON (2010)
DIFFERENTIAL EXPRESSION OF EXON 5 SPLICE VARIANTS OF SODIUM CHANNEL α SUBUNIT mRNAs IN THE DEVELOPING MOUSE BRAIN
E. V. Gazina et al.
NEUROSCIENCE (2010)
Electrophysiology and beyond: Multiple roles of Na+ channel β subunits in development and disease
Gustavo A. Patino et al.
NEUROSCIENCE LETTERS (2010)
Molecular Identity of Dendritic Voltage-Gated Sodium Channels
Andrea Lorincz et al.
SCIENCE (2010)
Multi-locus models of genetic risk of disease
Naomi R. Wray et al.
GENOME MEDICINE (2010)
Prediction by Modeling That Epilepsy May Be Caused by Very Small Functional Changes in Ion Channels
Evan A. Thomas et al.
ARCHIVES OF NEUROLOGY (2009)
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Ingrid E. Scheffer et al.
BRAIN & DEVELOPMENT (2009)
Parental SCN1A mutation mosaicism in familial Dravet syndrome
K. K. Selmer et al.
CLINICAL GENETICS (2009)
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
Ligia A. Papale et al.
HUMAN MOLECULAR GENETICS (2009)
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
John H. Livingston et al.
JOURNAL OF CHILD NEUROLOGY (2009)
A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome
Gustavo A. Patino et al.
JOURNAL OF NEUROSCIENCE (2009)
Regulation of Persistent Na Current by Interactions between β Subunits of Voltage-Gated Na Channels
Teresa K. Aman et al.
JOURNAL OF NEUROSCIENCE (2009)
Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation
Wenqin Hu et al.
NATURE NEUROSCIENCE (2009)
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS plus ) mutation
Bin Tang et al.
NEUROBIOLOGY OF DISEASE (2009)
De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies
I. Ogiwara et al.
NEUROLOGY (2009)
Mechanisms of human inherited epilepsies
Christopher A. Reid et al.
PROGRESS IN NEUROBIOLOGY (2009)
A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome
Nanda A. Singh et al.
PLOS GENETICS (2009)
How do mutant Nav1.1 sodium channels cause epilepsy?
David S. Ragsdale
BRAIN RESEARCH REVIEWS (2008)
Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases
William A. Catterall et al.
JOURNAL OF NEUROSCIENCE (2008)
Functional properties and differential neuromodulation of Nav1.6 channels
Yuan Chen et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2008)
Nav1.1 is predominantly expressed in nodes of Ranvier and axon initial segments
Amandine Duflocq et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2008)
Novel mRNA isoforms of the sodium channels Nav1.2, Nav1.3 and Nav1.7 encode predicted two-domain, truncated proteins
N. C. H. Kerr et al.
NEUROSCIENCE (2008)
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy
Melinda S. Martin et al.
HUMAN MOLECULAR GENETICS (2007)
Generalized epilepsy with febrile seizures plus-associated sodium channel β1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function
R. Xu et al.
NEUROSCIENCE (2007)
Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel β1 subunits
E. A. Thomas et al.
NEUROSCIENCE (2007)
Changes in ultrastructure and endogenous ionic channels activity during culture of HEK 293 cell line
Martina Kurejova et al.
EUROPEAN JOURNAL OF PHARMACOLOGY (2007)
SCN2A mutations and benign familial neonatal-infantile seizures:: The phenotypic spectrum
Eric Herlenius et al.
EPILEPSIA (2007)
Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons:: A circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation
Ikuo Ogiwara et al.
JOURNAL OF NEUROSCIENCE (2007)
The spectrum of SCNIA-related infantile epileptic encephalopathies
Louise A. Harkin et al.
BRAIN (2007)
Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutations
Ingrid E. Scheffer et al.
BRAIN (2007)
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel
Ruwei Xu et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2007)
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy
Masafumi Morimoto et al.
EPILEPSIA (2006)
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy
Carla Marini et al.
EPILEPSIA (2006)
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
Frank H. Yu et al.
NATURE NEUROSCIENCE (2006)
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy:: a retrospective study
Samuel F. Berkovic et al.
LANCET NEUROLOGY (2006)
β1-subunit modulates the Nav1.4 sodium channel by changing the surface charge
Loretta Ferrera et al.
EXPERIMENTAL BRAIN RESEARCH (2006)
International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels
WA Catterall et al.
PHARMACOLOGICAL REVIEWS (2005)
Sodium channel mutations in epilepsy and other neurological disorders
MH Meisler et al.
JOURNAL OF CLINICAL INVESTIGATION (2005)
Electrophysiological properties of two axonal sodium channels, Nav1.2 and Nav1.6, expressed in mouse spinal sensory neurones
AM Rush et al.
JOURNAL OF PHYSIOLOGY-LONDON (2005)
Open-channel block by the cytoplasmic tail of sodium channel β4 as a mechanism for resurgent sodium current
TM Grieco et al.
NEURON (2005)
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
SF Berkovic et al.
ANNALS OF NEUROLOGY (2004)
Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus
J Spampanato et al.
JOURNAL OF NEUROPHYSIOLOGY (2004)
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
D Audenaert et al.
NEUROLOGY (2003)
Sodium channel heterologous expression in mammalian cells and the role of the endogenous β1-subunits
O Moran et al.
NEUROSCIENCE LETTERS (2003)
Differential modulation of sodium channel gating and persistent sodium currents by the β1, β2, and β3 subunits
Y Qu et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2001)
Developmental expression of the novel voltage-gated sodium channel auxiliary subunit β3, in rat CNS
BS Shah et al.
JOURNAL OF PHYSIOLOGY-LONDON (2001)
Comparative distribution of voltage-gated sodium channel proteins in human brain
WRJ Whitaker et al.
MOLECULAR BRAIN RESEARCH (2001)
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities
JA Kearney et al.
NEUROSCIENCE (2001)