(Q30493834)

14 September 2017

Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities (English)

1 reference

14 September 2017

0 references

Sergio Tufik

1 reference

14 September 2017

Alan L Goldin

1 reference

14 September 2017

Melinda S Martin

1 reference

14 September 2017

Karoni Dutt

1 reference

14 September 2017

Ligia A Papale

1 reference

14 September 2017

Céline M Dubé

1 reference

14 September 2017

Stacey B Dutton

1 reference

14 September 2017

Georgius de Haan

1 reference

14 September 2017

Anupama Shankar

1 reference

14 September 2017

Miriam H Meisler

1 reference

14 September 2017

Tallie Z Baram

1 reference

14 September 2017

Andrew Escayg

1 reference

14 September 2017

language of work or name

English

0 references

publication date

25 January 2010

1 reference

Journal of Biological Chemistry

14 September 2017

1 reference

14 September 2017

285

1 reference

14 September 2017

1 reference

14 September 2017

9823-9834

1 reference

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in 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=2843231

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

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=2843231

Interleukin-1beta contributes to the generation of experimental febrile 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=2843231

Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium 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=2843231

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

Molecular basis of an inherited epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 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=2843231

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=2843231

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

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=2843231

Prolonged febrile seizures in the immature rat model enhance hippocampal excitability long term

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

Evidence of an agrin receptor in cortical neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

Movement of voltage sensor S4 in domain 4 is tightly coupled to sodium channel fast inactivation and gating charge immobilization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

Modification of seizure activity by electrical stimulation. II. Motor seizure

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2843231

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online

20 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.078568

Formation of functional synaptic connections between cultured cortical neurons from agrin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.078568

Immunohistochemical localization of GAD67-expressing neurons and processes in the rat brainstem: subregional distribution in the nucleus tractus solitarius

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.078568

Reduced anticonvulsant efficacy of valproic acid in dopamine beta-hydroxylase knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.078568

Distal initiation and active propagation of action potentials in interneuron dendrites.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.078568

Effects of seizure repetition on postictal and interictal neurocardiac regulation in the rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.078568

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20100831

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20100831

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1074/JBC.M109.078568

1 reference

14 September 2017

1 reference

14 September 2017

PubMed publication ID

20100831

1 reference