A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro (Q40837265)

24 September 2017

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

1 reference

24 September 2017

Alekov A

1

1 reference

24 September 2017

Rahman MM

2

1 reference

24 September 2017

Mitrovic N

3

1 reference

24 September 2017

Lehmann-Horn F

4

1 reference

24 September 2017

Lerche H

5

1 reference

24 September 2017

language of work or name

English

0 references

publication date

1 December 2000

1 reference

24 September 2017

Journal of Physiology

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24 September 2017

529 Pt 3

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24 September 2017

533-539

1 reference

Immobilizing the moving parts of voltage-gated ion channels

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Role of domain 4 in sodium channel slow inactivation

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Endogenous expression of the beta1A sodium channel subunit in HEK-293 cells

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

beta 3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Voltage-gated ion channels and hereditary disease

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Diversity of mammalian voltage-gated sodium channels.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivation

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Functional analysis of the rat I sodium channel in xenopus oocytes.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

A potassium channel mutation in neonatal human epilepsy

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Role in fast inactivation of the IV/S4-S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

From mutation to myotonia in sodium channel disorders

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

A unique role for the S4 segment of domain 4 in the inactivation of sodium channels

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Molecular basis of charge movement in voltage-gated sodium channels

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2270215

14 September 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-7793.2000.00533.X

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11118488

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1469-7793.2000.00533.X

1 reference

24 September 2017

0 references

1 reference