4.8 Article

Severe deficiency of the voltage-gated sodium channel NaV1.2 elevates neuronal excitability in adult mice

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

SCN2A-Developmental and Epileptic Encephalopathies: Challenges to trial-readiness for non-seizure outcomes

Anne T. Berg et al.

Summary: The study found that children with SCN2A-associated DEEs generally have lower levels of development, and the VABS has limitations in accurately reflecting the development or regression of these children. Some subdomains showed significant floor effects, with standardized scores decreasing much faster than the increase in raw scores over time.

EPILEPSIA (2021)

Article Behavioral Sciences

Generation and basic characterization of a gene-trap knockout mouse model of Scn2a with a substantial reduction of voltage-gated sodium channel Nav1.2 expression

Muriel Eaton et al.

Summary: A novel mouse model of severe Scn2a deficiency (Scn2a(gtKO/gtKO)) was characterized, showing anxiety-like behaviors, increased fix-pattern exploration, and slight repetitive behaviors. These mice provide a unique model to study the pathophysiology associated with severe Scn2a deficiency.

GENES BRAIN AND BEHAVIOR (2021)

Article Cell Biology

Paradoxical hyperexcitability from NaV1.2 sodium channel loss in neocortical pyramidal cells

Perry W. E. Spratt et al.

Summary: The loss of Na(V)1.2 channels in pyramidal neurons leads to intrinsically hyperexcitable neurons, firing high-frequency bursts of action potentials despite reductions in AP size and speed. This cell-intrinsic mechanism may explain why loss-of-function variants in SCN2A gene paradoxically promote seizure.

CELL REPORTS (2021)

Review Neurosciences

Seizures in Mouse Models of Rare Neurodevelopmental Disorders

Merrick S. Fallah et al.

NEUROSCIENCE (2020)

Article Pharmacology & Pharmacy

Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine

Rian W. Manville et al.

JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2020)

Article Neurosciences

Epilepsy Gene Therapy Using an Engineered Potassium Channel

Albert Snowball et al.

JOURNAL OF NEUROSCIENCE (2019)

Article Clinical Neurology

Cortico-striatal synchronization in human focal seizures

Jerome Aupy et al.

BRAIN (2019)

Article Multidisciplinary Sciences

Impaired cortico-striatal excitatory transmission triggers epilepsy

Hiroyuki Miyamoto et al.

NATURE COMMUNICATIONS (2019)

Article Clinical Neurology

Prominent role of forebrain excitatory neurons in SCN8A encephalopathy

Rosie K. A. Bunton-Stasyshyn et al.

BRAIN (2019)

Review Clinical Neurology

Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox

Zachary Niday et al.

NEUROSCIENTIST (2018)

Article Multidisciplinary Sciences

Role of sodium channel subtype in action potential generation by neocortical pyramidal neurons

Efrat Katz et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Review Neurosciences

Progress in Understanding and Treating SCN2A-Mediated Disorders

Stephan J. Sanders et al.

TRENDS IN NEUROSCIENCES (2018)

Article Biology

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice

Ikuo Ogiwara et al.

COMMUNICATIONS BIOLOGY (2018)

Article Neurosciences

D3 Receptors Regulate Excitability in a Unique Class of Prefrontal Pyramidal Cells

Rebecca L. Clarkson et al.

JOURNAL OF NEUROSCIENCE (2017)

Article Pharmacology & Pharmacy

Molecular mechanisms underlying pimaric acid-induced modulation of voltage-gated K+ channels

Kazuho Sakamoto et al.

JOURNAL OF PHARMACOLOGICAL SCIENCES (2017)

Article Neurosciences

Regulation of Thalamic and Cortical Network Synchrony by Scn8a

Christopher D. Makinson et al.

NEURON (2017)

Article Multidisciplinary Sciences

Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy

Luis F. Lopez-Santiago et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Review Biochemistry & Molecular Biology

Distribution and function of voltage-gated sodium channels in the nervous system

Jun Wang et al.

CHANNELS (2017)

Article Biochemistry & Molecular Biology

Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2

Tetsushi Yamagata et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2017)

Article Multidisciplinary Sciences

De novo genic mutations among a Chinese autism spectrum disorder cohort

Tianyun Wang et al.

NATURE COMMUNICATIONS (2016)

Review Neurosciences

Striatal Circuits as a Common Node for Autism Pathophysiology

Marc V. Fuccillo

FRONTIERS IN NEUROSCIENCE (2016)

Article Genetics & Heredity

KCNQ2 encephalopathy Features, mutational hot spots, and ezogabine treatment of 11 patients

John J. Millichap et al.

NEUROLOGY-GENETICS (2016)

Article Multidisciplinary Sciences

Auxiliary KCNE subunits modulate both homotetrameric Kv2.1 and heterotetrameric Kv2.1/Kv6.4 channels

Jens-Peter David et al.

SCIENTIFIC REPORTS (2015)

Article Biochemical Research Methods

HTSeq-a Python framework to work with high-throughput sequencing data

Simon Anders et al.

BIOINFORMATICS (2015)

Article Biochemistry & Molecular Biology

'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour

Elena V. Gazina et al.

HUMAN MOLECULAR GENETICS (2015)

Article Biochemical Research Methods

Trimmomatic: a flexible trimmer for Illumina sequence data

Anthony M. Bolger et al.

BIOINFORMATICS (2014)

Article Biochemical Research Methods

Targeting cells with single vectors using multiple-feature Boolean logic

Lief E. Fenno et al.

NATURE METHODS (2014)

Review Neurosciences

Prioritization of neurodevelopmental disease genes by discovery of new mutations

Alexander Hoischen et al.

NATURE NEUROSCIENCE (2014)

Article Neurosciences

Molecular identity of axonal sodium channels in human cortical pyramidal cells

Cuiping Tian et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2014)

Article Multidisciplinary Sciences

Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum

Haruko Miyazaki et al.

NATURE COMMUNICATIONS (2014)

Article Biotechnology & Applied Microbiology

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love et al.

GENOME BIOLOGY (2014)

Article Biochemical Research Methods

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin et al.

BIOINFORMATICS (2013)

Article Neurosciences

Modeling Transformations of Neurodevelopmental Sequences across Mammalian Species

Alan D. Workman et al.

JOURNAL OF NEUROSCIENCE (2013)

Review Neurosciences

The Physiology of the Axon Initial Segment

Kevin J. Bender et al.

ANNUAL REVIEW OF NEUROSCIENCE, VOL 35 (2012)

Article Multidisciplinary Sciences

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan J. Sanders et al.

NATURE (2012)

Article Biotechnology & Applied Microbiology

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

Guangchuang Yu et al.

OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2012)

Article Cell Biology

Optogenetic and Potassium Channel Gene Therapy in a Rodent Model of Focal Neocortical Epilepsy

Robert C. Wykes et al.

SCIENCE TRANSLATIONAL MEDICINE (2012)

Article Multidisciplinary Sciences

A conditional knockout resource for the genome-wide study of mouse gene function

William C. Skarnes et al.

NATURE (2011)

Article Biochemical Research Methods

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

Mark D. Robinson et al.

BIOINFORMATICS (2010)

Article Neurosciences

Projection-Specific Neuromodulation of Medial Prefrontal Cortex Neurons

Nikolai C. Dembrow et al.

JOURNAL OF NEUROSCIENCE (2010)

Article Neurosciences

Going native: voltage-gated potassium channels controlling neuronal excitability

Jamie Johnston et al.

JOURNAL OF PHYSIOLOGY-LONDON (2010)

Article Toxicology

Effect of melamine on potassium currents in rat hippocampal CA1 neurons

Jia-Jia Yang et al.

TOXICOLOGY IN VITRO (2010)

Article Biochemistry & Molecular Biology

Regulation of the Kv2.1 Potassium Channel by MinK and MiRP1

Zoe A. McCrossan et al.

JOURNAL OF MEMBRANE BIOLOGY (2009)

Article Neurosciences

Loss of Dendritic HCN1 Subunits Enhances Cortical Excitability and Epileptogenesis

Zhuo Huang et al.

JOURNAL OF NEUROSCIENCE (2009)

Article Biochemical Research Methods

Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt

Steffen Durinck et al.

NATURE PROTOCOLS (2009)

Review Biotechnology & Applied Microbiology

Voltage-gated potassium channels as therapeutic targets

Heike Wulff et al.

NATURE REVIEWS DRUG DISCOVERY (2009)

Article Neurosciences

Cell-Type-Dependent Molecular Composition of the Axon Initial Segment

Andrea Lorincz et al.

JOURNAL OF NEUROSCIENCE (2008)

Article Multidisciplinary Sciences

Graded regulation of the Kv2.1 potassium channel by variable phosphorylation

Kang-Sik Park et al.

SCIENCE (2006)

Letter Genetics & Heredity

A public gene trap resource for mouse functional genomics

WC Skarnes et al.

NATURE GENETICS (2004)

Article Neurosciences

Potassium channels Kv1.1, Kv1.2 and Kv1.6 influence excitability of rat visceral sensory neurons

PA Glazebrook et al.

JOURNAL OF PHYSIOLOGY-LONDON (2002)

Article Computer Science, Artificial Intelligence

Dependence of firing pattern on intrinsic ionic conductances: Sensitive and insensitive combinations

MS Goldman et al.

NEUROCOMPUTING (2000)

Article Biochemistry & Molecular Biology

M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit

N Tinel et al.

FEBS LETTERS (2000)