Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus (Q30495760)

19 October 2017

Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus (English)

1 reference

19 October 2017

13

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Verena C. Wimmer

Verena C Wimmer

1

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Elisa L Hill-Yardin

Elisa L Hill

7

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Brett A Cromer

Brett A Cromer

10

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Christopher A Reid

Christopher A Reid

2

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Samuel Berkovic

Samuel F Berkovic

14

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author name string

Suzanne Mitchell

3

1 reference

19 October 2017

Kay L Richards

4

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19 October 2017

Byron B Scaf

5

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19 October 2017

Bryan T Leaw

6

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19 October 2017

Michel Royeck

8

1 reference

19 October 2017

Marie-Therese Horstmann

9

1 reference

19 October 2017

Philip J Davies

11

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19 October 2017

Ruwei Xu

12

1 reference

19 October 2017

Heinz Beck

15

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19 October 2017

Steven Petrou

16

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19 October 2017

language of work or name

English

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publication date

12 July 2010

1 reference

Journal of Clinical Investigation

19 October 2017

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19 October 2017

120

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19 October 2017

8

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19 October 2017

2661-2671

1 reference

describes a project that uses

19 October 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2912193/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Axon initial segment dysfunction in epilepsy

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

20 June 2018

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Heat opens axon initial segment sodium channels: a febrile seizure mechanism?

20 June 2018

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A functional null mutation of SCN1B in a patient with Dravet syndrome

20 June 2018

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Axonal sodium channel distribution shapes the depolarized action potential threshold of dentate granule neurons

20 June 2018

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A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

20 June 2018

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

20 June 2018

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Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy

20 June 2018

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Regulation of persistent Na current by interactions between beta subunits of voltage-gated Na channels

20 June 2018

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Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

20 June 2018

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Axon initial segment Ca2+ channels influence action potential generation and timing

20 June 2018

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Sodium channel beta1 regulatory subunit deficiency reduces pancreatic islet glucose-stimulated insulin and glucagon secretion.

20 June 2018

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An emerging role for voltage-gated Na+ channels in cellular migration: regulation of central nervous system development and potentiation of invasive cancers

20 June 2018

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The functional organization and assembly of the axon initial segment.

20 June 2018

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Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

20 June 2018

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Action potential generation requires a high sodium channel density in the axon initial segment

20 June 2018

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Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

20 June 2018

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Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits

20 June 2018

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

20 June 2018

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20 June 2018

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

20 June 2018

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An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability

20 June 2018

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Temporal lobe epilepsy after experimental prolonged febrile seizures: prospective analysis

20 June 2018

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Output-mode transitions are controlled by prolonged inactivation of sodium channels in pyramidal neurons of subiculum

20 June 2018

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Improved monomeric red, orange and yellow fluorescent proteins derived from Discosoma sp. red fluorescent protein

20 June 2018

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

20 June 2018

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Heterophilic interactions of sodium channel beta1 subunits with axonal and glial cell adhesion molecules

20 June 2018

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Use-dependent potentiation of the Nav1.6 sodium channel

20 June 2018

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Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture

20 June 2018

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Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin

20 June 2018

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

20 June 2018

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A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

20 June 2018

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Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1

20 June 2018

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Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain

20 June 2018

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Tenascin-R is a functional modulator of sodium channel beta subunits

20 June 2018

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Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

20 June 2018

1 reference

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Functional co-expression of the beta 1 and type IIA alpha subunits of sodium channels in a mammalian cell line

20 June 2018

1 reference

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Electroencephalographic study of rat hyperthermic seizures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

Cell-type-dependent molecular composition of the axon initial segment

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

Role of axonal NaV1.6 sodium channels in action potential initiation of CA1 pyramidal neurons

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

Action potential initiation and propagation in CA3 pyramidal axons.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

Site of action potential initiation in layer 5 pyramidal neurons.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

Targeted in vivo expression of proteins in the calyx of Held.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

KCNQ2 is a nodal K+ channel.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

Adenoviral-mediated expression of functional Na+ channel beta1 subunits tagged with a yellow fluorescent protein.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

GABAergic and glutamatergic axons innervate the axon initial segment and organize GABA(A) receptor clusters of cultured hippocampal pyramidal cells

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

Differential modulation of sodium channel gating and persistent sodium currents by the beta1, beta2, and beta3 subunits.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

Functional roles of the extracellular segments of the sodium channel alpha subunit in voltage-dependent gating and modulation by beta1 subunits.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2912193

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

26 November 2018

1 reference

12 December 2020

Voltage-gated Na+ channels: potential for beta subunits as therapeutic targets

1 reference

12 December 2020

Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression

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12 December 2020

Initiation and spread of sodium action potentials in cerebellar Purkinje cells

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12 December 2020

Identifiers

DOI

10.1172/JCI42219

1 reference

19 October 2017

1 reference

19 October 2017

1 reference