(Q35375026)

8 August 2017

title

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome (English)

1 reference

8 August 2017

Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome (English)

1 reference

Crossref

https://api.crossref.org/works/10.1111/J.1460-9568.2011.07826.X

10 December 2024

Dick Lindhout

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

10 December 2024

Linda Volkers

1 reference

8 August 2017

Hans Stroink

1 reference

8 August 2017

Paul Augustijn

1 reference

8 August 2017

Onno van Nieuwenhuizen

1 reference

8 August 2017

Kristopher M. Kahlig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

10 December 2024

Nienke E. Verbeek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

10 December 2024

Joost H. G. Das

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

10 December 2024

Marjan J. A. van Kempen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

10 December 2024

Alfred L. George

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

10 December 2024

Bobby P. C. Koeleman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

10 December 2024

Martin B. Rook

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

10 December 2024

language of work or name

English

0 references

publication date

22 August 2011

1 reference

full work available at URL

8 August 2017

https://europepmc.org/articles/pmc3195841?pdf=render

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

https://europepmc.org/articles/PMC3195841

10 December 2024

file format

HyperText Markup Language

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

https://europepmc.org/articles/PMC3195841?pdf=render

10 December 2024

file format

Portable Document Format

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

https://doi.org/10.1111/j.1460-9568.2011.07826.x

10 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21864321

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1460-9568.2011.07826.x

10 December 2024

1 reference

Crossref

https://api.crossref.org/works/10.1111/J.1460-9568.2011.07826.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1460-9568.2011.07826.x/fullpdf

10 December 2024

1 reference

Crossref

https://api.crossref.org/works/10.1111/J.1460-9568.2011.07826.X

European Journal of Neuroscience

10 December 2024

published in

1 reference

8 August 2017

1 reference

8 August 2017

1 reference

8 August 2017

page(s)

1268-1275

1 reference

Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

NaV1.1 channels and epilepsy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

A functional null mutation of SCN1B in a patient with Dravet syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

A catalog of SCN1A variants

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Persistent Sodium Current and Its Role in Epilepsy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Molecular basis of an inherited epilepsy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Milder phenotype with SCN1A truncation mutation other than SMEI.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

The spectrum of SCN1A-related infantile epileptic encephalopathies

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195841

26 September 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2011.07826.X

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21864321

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

8 August 2017

1 reference

8 August 2017

1 reference