(Q28300929)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525050%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability (English)

1 reference

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17 January 2020

author

Jessica Ezzell Hunter

4

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17 January 2020

Alan Goldin

7

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17 January 2020

author name string

Arthur J Barela

1

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17 January 2020

Salina P Waddy

2

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17 January 2020

Jay G Lickfett

3

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17 January 2020

Aimee Anido

5

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17 January 2020

Sandra L Helmers

6

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17 January 2020

Andrew Escayg

8

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17 January 2020

language of work or name

English

0 references

publication date

1 March 2006

1 reference

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17 January 2020

published in

Journal of Neuroscience

1 reference

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17 January 2020

volume

26

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17 January 2020

issue

10

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17 January 2020

page(s)

2714-2723

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

17 January 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Role of domain 4 in sodium channel slow inactivation

1 reference

12 December 2020

A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

1 reference

12 December 2020

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Two mutations in the IV/S4-S5 segment of the human skeletal muscle Na+ channel disrupt fast and enhance slow inactivation

1 reference

12 December 2020

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

1 reference

12 December 2020

Neutralization of gating charges in domain II of the sodium channel alpha subunit enhances voltage-sensor trapping by a beta-scorpion toxin

1 reference

12 December 2020

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

1 reference

12 December 2020

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Molecular basis of an inherited epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

1 reference

12 December 2020

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

1 reference

12 December 2020

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

1 reference

12 December 2020

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Coupling interactions between voltage sensors of the sodium channel as revealed by site-specific measurements

1 reference

12 December 2020

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

1 reference

12 December 2020

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

1 reference

12 December 2020

Role of arginine residues on the S4 segment of the Bacillus halodurans Na+ channel in voltage-sensing.

1 reference

12 December 2020

SCN1A mutations and epilepsy

1 reference

12 December 2020

A voltage-dependent gating transition induces use-dependent block by tetrodotoxin of rat IIA sodium channels expressed in Xenopus oocytes.

1 reference

12 December 2020

Chapter 25 Expression of Ion Channels by Injection of mRNA into Xenopus Oocytes

1 reference

12 December 2020

Gating currents of inactivating and non-inactivating potassium channels expressed in Xenopus oocytes.

1 reference

12 December 2020

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

1 reference

12 December 2020

Impaired slow inactivation in mutant sodium channels

1 reference

12 December 2020

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

1 reference

12 December 2020

Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes.

1 reference

12 December 2020

Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis

1 reference

12 December 2020

The NEURON simulation environment

1 reference

12 December 2020

Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains

1 reference

12 December 2020

Independent versus coupled inactivation in sodium channels. Role of the domain 2 S4 segment

1 reference

12 December 2020

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

1 reference

12 December 2020

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

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1 reference

12 December 2020

10.1523/JNEUROSCI.2977-05.2006

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16525050%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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17 January 2020

PubMed publication ID

16525050

1 reference