(Q37861258)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21463275%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

review article

1 reference

title

The genetics of Dravet syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21463275%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

2

1 reference

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27 January 2020

Arvid Suls

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21463275%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Federico Zara

series ordinal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21463275%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

7

Renzo Guerrini

1 reference

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27 January 2020

5

Peter De Jonghe

1 reference

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27 January 2020

3

Rima Nabbout

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21463275%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Carla Marini

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21463275%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

publication date

1 April 2011

1 reference

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27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21463275%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

52 Suppl 2

1 reference

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27 January 2020

page(s)

24-29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21463275%20AND%20SRC:MED&resulttype=core&format=json

Epileptogenic channelopathies: experimental models of human pathologies.

27 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.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.1528-1167.2011.02997.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.1528-1167.2011.02997.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.1528-1167.2011.02997.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.1528-1167.2011.02997.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.1528-1167.2011.02997.X

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.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.1528-1167.2011.02997.X

The spectrum of SCN1A-related infantile epileptic encephalopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.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.1528-1167.2011.02997.X

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

Sodium channel mutations in epilepsy and other neurological disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

SCN1A mutations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.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.1528-1167.2011.02997.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.1528-1167.2011.02997.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.1528-1167.2011.02997.X

How do mutant Nav1.1 sodium channels cause epilepsy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

Epilepsy and mental retardation limited to females: an under-recognized disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.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.1528-1167.2011.02997.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.1528-1167.2011.02997.X

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.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.1528-1167.2011.02997.X

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.02997.X