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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

scientific article (publication date: 15 December 2002)

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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 (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758463&resulttype=core&format=json

12 May 2020

generalized epilepsy with febrile seizures plus

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Lori L Isom

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Laurence S Meadows

1

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12 May 2020

Jyoti Malhotra

2

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12 May 2020

Andrew Loukas

3

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12 May 2020

Veena Thyagarajan

4

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12 May 2020

Kristin A Kazen-Gillespie

5

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12 May 2020

Matthew C Koopman

6

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12 May 2020

Steven Kriegler

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12 May 2020

David S Ragsdale

9

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758463&resulttype=core&format=json

12 May 2020

Lori L Isom

8

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758463&resulttype=core&format=json

12 May 2020

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15 December 2002

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Journal of Neuroscience

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12 May 2020

22

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12 May 2020

24

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758463&resulttype=core&format=json

12 May 2020

10699-10709

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758463&resulttype=core&format=json

12 May 2020

Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sodium channel beta subunits mediate homophilic cell adhesion and recruit ankyrin to points of cell-cell contact

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ion channels and epilepsy in man and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impact of our understanding of the genetic aetiology of epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning, distribution and functional analysis of the type III sodium channel from human brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nomenclature of voltage-gated sodium channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The intracellular segment of the sodium channel beta 1 subunit is required for its efficient association with the channel alpha subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sodium channel beta subunits: anything but auxiliary

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Contactin associates with Na+ channels and increases their functional expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genes and mutations in idiopathic epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ion channels and epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of epilepsy genes in human and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of an inherited epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional modulation of human brain Nav1.3 sodium channels, expressed in mammalian cells, by auxiliary beta 1, beta 2 and beta 3 subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient expression of rat brain type IIA Na+ channel α subunits in a somatic cell line

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

μl Na+ channels expressed transiently in human embryonic kidney cells: Biochemical and biophysical properties

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inactivation of cloned Na channels expressed in Xenopus oocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sticky molecules in not-so-sticky cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Site-directed mutagenesis by double polymerase chain reaction : megaprimer method

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential regulation of three sodium channel messenger RNAs in the rat central nervous system during development.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The immunoglobulin superfamily--domains for cell surface recognition

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inactivation of the sodium channel. II. Gating current experiments

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Formation of a disulfide bond in the immunoglobulin domain of the myelin P0 protein is essential for its adhesion

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of cellular adhesion in cultured cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and function of the beta 2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Slow Recovery from Inactivation of Na+Channels Underlies the Activity-Dependent Attenuation of Dendritic Action Potentials in Hippocampal CA1 Pyramidal Neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prolonged Sodium Channel Inactivation Contributes to Dendritic Action Potential Attenuation in Hippocampal Pyramidal Neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction of voltage-gated sodium channels with the extracellular matrix molecules tenascin-C and tenascin-R

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular basis for the different local anesthetic affinities of resting versus open and inactivated states of the sodium channel.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12486163

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.22-24-10699.2002

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758463&resulttype=core&format=json

12 May 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758463&resulttype=core&format=json

12 May 2020

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758463&resulttype=core&format=json

12 May 2020

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