(Q30485081)

20 August 2017

Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss (English)

1 reference

20 August 2017

1 reference

F E Mackenzie

1 reference

20 August 2017

A Parker

1 reference

20 August 2017

N J Parkinson

1 reference

20 August 2017

P L Oliver

1 reference

20 August 2017

D Brooker

1 reference

20 August 2017

P Underhill

1 reference

20 August 2017

V A Lukashkina

1 reference

20 August 2017

A N Lukashkin

1 reference

20 August 2017

C Holmes

1 reference

20 August 2017

S D M Brown

1 reference

20 August 2017

language of work or name

English

0 references

publication date

22 June 2009

1 reference

Genes, Brain and Behavior

20 August 2017

1 reference

20 August 2017

1 reference

20 August 2017

1 reference

20 August 2017

699-713

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Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Quiet as a mouse: dissecting the molecular and genetic basis of hearing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Power amplification in the mammalian cochlea

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Therapeutics of hearing loss: expectations vs reality

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Keynote review: The auditory system, hearing loss and potential targets for drug development.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Sodium channel mutations in epilepsy and other neurological disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Where is the spike generator of the cochlear nerve? Voltage-gated sodium channels in the mouse cochlea.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Behavioral audiograms of homozygous med(J) mutant mice with sodium channel deficiency and unaffected controls

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Focusing on the genetics of hearing: you ain't heard nothin' yet.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Molecular diversity of structure and function of the voltage-gated Na+ channels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Mechanics of the mammalian cochlea

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

A molecular link between the sudden infant death syndrome and the long-QT syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Sodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

The sodium channel Scn8a is the major contributor to the postnatal developmental increase of sodium current density in spinal motoneurons.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Altered Subthreshold Sodium Currents and Disrupted Firing Patterns in Purkinje Neurons of Scn8a Mutant Mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

mdfw:A Deafness Susceptibility Locus That Interacts with Deaf Waddler (dfw)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Inherited hearing defects in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Electrophysiological studies of neuromuscular transmission in hereditary 'motor end-plate disease' of the mouse.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

A cerebellar abnormality in the mouse with motor end-plate disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Developmentally-regulated coexpression of vimentin and cytokeratins in the rat inner ear.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Auditory brainstem volume-conducted responses: origins in the laboratory mouse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Hearing impairment in essential tremor

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2009.00514.X

Suicide attempt and basic mechanisms in neural conduction: relationships to the SCN8A and VAMP4 genes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2009.00514.X

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Altered gating and local anesthetic block mediated by residues in the I-S6 and II-S6 transmembrane segments of voltage-dependent Na+ channels

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Role of amino acid residues in transmembrane segments IS6 and IIS6 of the Na+ channel alpha subunit in voltage-dependent gating and drug block.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Disparate role of Na(+) channel D2-S6 residues in batrachotoxin and local anesthetic action

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Keratin filament deployment and cytoskeletal networking in a sensory epithelium that vibrates during hearing

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Dystonia in a patient with deletion of 18q.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784214

Reduced spontaneous activity in the dorsal cochlear nucleus of Scn8a mutant mice

26 November 2018

1 reference

12 December 2020

Myotonia fluctuans. A third type of muscle sodium channel disease

1 reference

12 December 2020

Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15.

1 reference

12 December 2020

Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3

1 reference

12 December 2020

Nav1.6 channels generate resurgent sodium currents in spinal sensory neurons

1 reference

12 December 2020

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

1 reference

12 December 2020

10.1111/J.1601-183X.2009.00514.X

Identifiers

DOI

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

19737145

1 reference