(Q40489715)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18479388%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures (English)

1 reference

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7 January 2020

1

1 reference

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7 January 2020

author name string

Kristopher M Kahlig

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18479388%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Alfred L George

series ordinal

3

1 reference

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7 January 2020

publication date

21 April 2008

1 reference

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7 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18479388%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18479388%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

9

1 reference

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7 January 2020

page(s)

1535-1545

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describes a project that uses

7 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3647030/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

1 reference

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A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

22 September 2017

1 reference

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Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules.

22 September 2017

1 reference

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

22 September 2017

1 reference

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Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Sodium channel mutations in epilepsy and other neurological disorders

22 September 2017

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Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

22 September 2017

1 reference

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Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin

22 September 2017

1 reference

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Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia

22 September 2017

1 reference

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Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Amphetamine regulation of dopamine transport. Combined measurements of transporter currents and transporter imaging support the endocytosis of an active carrier.

22 September 2017

1 reference

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Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Dynamic compartmentalization of the voltage-gated sodium channels in axons.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Sodium-channel defects in benign familial neonatal-infantile seizures

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Molecular basis of an inherited epilepsy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Nodes of Ranvier come of age.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Auxiliary subunits of voltage-gated ion channels

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

PI 3-kinase regulation of dopamine uptake.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Cocaine increases dopamine uptake and cell surface expression of dopamine transporters

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Nav1.3 sodium channels: rapid repriming and slow closed-state inactivation display quantitative differences after expression in a mammalian cell line and in spinal sensory neurons.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Elevated expression of type II Na+ channels in hypomyelinated axons of shiverer mouse brain

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Distinct repriming and closed-state inactivation kinetics of Nav1.6 and Nav1.7 sodium channels in mouse spinal sensory neurons

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Site of action potential initiation in amphibian retinal ganglion cells

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

The spectrum of SCN1A-related infantile epileptic encephalopathies.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

A targeting motif involved in sodium channel clustering at the axonal initial segment.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Functional specialization of the axon initial segment by isoform-specific sodium channel targeting.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Differential control of clustering of the sodium channels Na(v)1.2 and Na(v)1.6 at developing CNS nodes of Ranvier

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647030

Benign familial neonatal-infantile seizures

2 December 2018

1 reference

12 December 2020

Structural parts involved in activation and inactivation of the sodium channel

1 reference

12 December 2020

Differential subcellular localization of the RI and RII Na+ channel subtypes in central neurons

1 reference

12 December 2020

Electrophysiological properties of two axonal sodium channels, Nav1.2 and Nav1.6, expressed in mouse spinal sensory neurones

1 reference

12 December 2020

A novel SCN2A mutation in family with benign familial infantile seizures

1 reference

12 December 2020

Regulation of dopamine transporter trafficking by intracellular amphetamine

1 reference

12 December 2020

10.1111/J.1528-1167.2008.01619.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18479388%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18479388%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference