(Q37866829)

24 August 2017

1 reference

title

Molecular genetics of Dravet syndrome (English)

1 reference

genetic predisposition to disease

24 August 2017

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21504425

30 November 2024

Peter De Jonghe

1 reference

24 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21504425

30 November 2024

publication date

1 April 2011

1 reference

24 August 2017

April 2011

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21504425

full work available at URL

30 November 2024

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1469-8749.2011.03965.x

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21504425

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1469-8749.2011.03965.x

30 November 2024

1 reference

DOI

https://api.crossref.org/works/10.1111/J.1469-8749.2011.03965.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1469-8749.2011.03965.x

30 November 2024

1 reference

DOI

https://api.crossref.org/works/10.1111/J.1469-8749.2011.03965.X

Developmental Medicine and Child Neurology

30 November 2024

published in

1 reference

24 August 2017

volume

53 Suppl 2

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24 August 2017

page(s)

7-10

1 reference

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

24 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

SCN1A mutations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

The SCN1A variant database: a novel research and diagnostic tool.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

A catalog of SCN1A variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

The spectrum of SCN1A-related infantile epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

Parental SCN1A mutation mosaicism in familial Dravet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

Timing of de novo mutagenesis--a twin study of sodium-channel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

Sodium channel SCN1A and epilepsy: mutations and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

Protocadherin 19 mutations in girls with infantile-onset epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03965.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.2011.03965.X

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

30 November 2024

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.2011.03965.X

Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

30 November 2024

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.2011.03965.X

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

30 November 2024

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.2011.03965.X

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

30 November 2024

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.2011.03965.X

30 November 2024

Identifiers

DOI

1 reference

24 August 2017

1 reference