(Q24544180)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

intractable childhood epilepsy with generalized tonic-clonic seizures

7 January 2020

main subject

tonic–clonic seizure

0 references

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Thomas H Rhodes

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Carlos G Vanoye

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Iori Ohmori

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Ikuo Ogiwara

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Alfred L George

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

language of work or name

English

0 references

publication date

6 October 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

published in

Journal of Physiology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

569

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

Pt 2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

433-445

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

7 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

24 March 2017

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2005.094326

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Sodium-channel defects in benign familial neonatal-infantile seizures

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Molecular basis of an inherited epilepsy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Epilepsy and sodium channel gene mutations: gain or loss of function?

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Reversed voltage-dependent gating of a bacterial sodium channel with proline substitutions in the S6 transmembrane segment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

An EF-hand in the sodium channel couples intracellular calcium to cardiac excitability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

The Na+ channel inactivation gate is a molecular complex: a novel role of the COOH-terminal domain.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Molecular mechanism for an inherited cardiac arrhythmia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Interactions between S4-S5 linker and S6 transmembrane domain modulate gating of HERG K+ channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Functional expression of sodium channel mutations identified in families with periodic paralysis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Grasping for calcium binding sites in sodium channels with an EF hand

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464244

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2005.094326

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2005.094326

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16210358

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1113/JPHYSIOL.2005.094326

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16210358%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PMC publication ID

1464244

0 references

1 reference