Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation (Q43168798)

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scientific article published on 19 October 2005

Language	Label	Description	Also known as
English	Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation	scientific article published on 19 October 2005

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

0 references

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

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

M M Trudeau

1

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

J C Dalton

2

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

J W Day

3

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

L P W Ranum

4

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

M H Meisler

5

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

language of work or name

0 references

publication date

19 October 2005

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

43

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Europe PubMed Central

PMC publication ID

15 November 2017

6

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

527-530

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

Sodium channel mutations in epilepsy and other neurological disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Sodium channels SCN1A, SCN2A and SCN3A in familial autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Identification of epilepsy genes in human and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Compact myelin dictates the differential targeting of two sodium channel isoforms in the same axon.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Resurgence of sodium channel research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Cardiac conduction defects associate with mutations in SCN5A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Evolution and diversity of mammalian sodium channel genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

25 May 2018

Activity-dependent long-term potentiation of intrinsic excitability in hippocampal CA1 pyramidal neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

15 August 2018

Lamotrigine has an anxiolytic-like profile in the rat conditioned emotional response test of anxiety: a potential role for sodium channels?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

15 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

15 August 2018

Sodium currents in subthalamic nucleus neurons from Nav1.6-null mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

15 August 2018

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

15 August 2018

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

15 August 2018

D1/D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564538

15 August 2018

Secondary structure of the human cardiac Na+ channel C terminus: evidence for a role of helical structures in modulation of channel inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16236810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

1 reference

https://pubmed.ncbi.nlm.nih.gov/16236810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16236810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.035667

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

ResearchGate publication ID

0 references

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