(Q28118989)

voltage-gated sodium channel activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Tjitske Kleefstra

7

0 references

Helger G Yntema

11

object named as

Helger G. Yntema

1 reference

4 January 2017

Marjolein H Willemsen

2

object named as

Marjolein H. Willemsen

1 reference

4 January 2017

Maxime G. Blanchard

1

1 reference

4 January 2017

Jaclyn B. Walker

3

1 reference

4 January 2017

Sulayman D. Dib-Hajj

4

1 reference

4 January 2017

Stephen G. Waxman

5

1 reference

4 January 2017

Marjolijn C. J. Jongmans

6

1 reference

4 January 2017

Bart P. van de Warrenburg

8

1 reference

4 January 2017

Peter Praamstra

9

1 reference

4 January 2017

Joost Nicolai

10

1 reference

4 January 2017

René J. M. Bindels

12

1 reference

4 January 2017

Miriam H. Meisler

13

1 reference

4 January 2017

Erik-Jan Kamsteeg

Journal of Medical Genetics

14

1 reference

4 January 2017

language of work or name

English

0 references

publication date

1 May 2015

1 reference

4 January 2017

1 reference

4 January 2017

52

1 reference

4 January 2017

5

1 reference

4 January 2017

330–337

1 reference

4 January 2017

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

De novo mutations in epileptic encephalopathies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Clustal W and Clustal X version 2.0

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

The phenotypic spectrum of SCN8A encephalopathy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Evidence for a role of Nav1.6 in facilitating increases in neuronal hyperexcitability during epileptogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Sudden unexpected death in a mouse model of Dravet syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Sodium channels and the neurobiology of epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

An ankyrinG-binding motif is necessary and sufficient for targeting Nav1.6 sodium channels to axon initial segments and nodes of Ranvier

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Functional reciprocity between Na+ channel Nav1.6 and beta1 subunits in the coordinated regulation of excitability and neurite outgrowth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Expression and distribution of voltage-gated sodium channels in the cerebellum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

A novel, abundant sodium channel expressed in neurons and glia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation.

2 June 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Dysregulation of sodium channel expression in cortical neurons in a rodent model of absence epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Differential targeting and functional specialization of sodium channels in cultured cerebellar granule cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Inactivation of sodium channel Scn8A (Na-sub(v)1.6) in Purkinje neurons impairs learning in Morris water maze and delay but not trace eyeblink classical conditioning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Long-term increasing co-localization of SCN8A and ankyrin-G in rat hippocampal cornu ammonis 1 after pilocarpine induced status epilepticus

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

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://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

A gating hinge in Na+ channels; a molecular switch for electrical signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102813

Persistent Nav1.6 current at axon initial segments tunes spike timing of cerebellar granule cells.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Calmodulin binds to the C terminus of sodium channels Nav1.4 and Nav1.6 and differentially modulates their functional properties.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4413743

Polarized distribution of ion channels within microdomains of the axon initial segment

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25725044

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25725044

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2014-102813

1 reference

2703761

2703761

1 reference

1 reference

1 reference