(Q49043808)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21762454%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients (English)

1 reference

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7 February 2020

3

1 reference

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7 February 2020

Didier Lacombe

8

1 reference

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7 February 2020

Catherine Chiron

9

1 reference

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7 February 2020

14

Delphine Héron

1 reference

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7 February 2020

7

Fanny Morice-Picard

1 reference

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7 February 2020

author name string

Cyril Mignot

1

1 reference

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7 February 2020

Marie-Laure Moutard

2

1 reference

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7 February 2020

Isabelle Gourfinkel-An

4

1 reference

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7 February 2020

Aurélia Jacquette

5

1 reference

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7 February 2020

Benoit Arveiler

6

1 reference

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7 February 2020

Dorothée Ville

10

1 reference

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7 February 2020

Perrine Charles

11

1 reference

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7 February 2020

Eric LeGuern

12

1 reference

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7 February 2020

Christel Depienne

13

1 reference

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7 February 2020

publication date

18 July 2011

1 reference

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7 February 2020

1 reference

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7 February 2020

volume

52

1 reference

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7 February 2020

issue

10

1 reference

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7 February 2020

page(s)

1820-1827

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21762454%20AND%20SRC:MED&resulttype=core&format=json

The three stages of epilepsy in patients with CDKL5 mutations

7 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Key clinical features to identify girls with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Conformational switch of syntaxin-1 controls synaptic vesicle fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Functionally and spatially distinct modes of munc18-syntaxin 1 interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Selective activation of cognate SNAREpins by Sec1/Munc18 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03163.X

10.1111/J.1528-1167.2011.03163.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21762454%20AND%20SRC:MED&resulttype=core&format=json

release_sisvzmbn55bafcccbg6gxarfcy

7 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sisvzmbn55bafcccbg6gxarfcy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference