(Q48506471)

12 February 2018

title

A novel STXBP1 mutation causes focal seizures with neonatal onset. (English)

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12 February 2018

6

Christine M Eng

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12 February 2018

author name string

Matteo Vatta

1

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12 February 2018

Michael B Tennison

2

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12 February 2018

Arthur S Aylsworth

3

1 reference

12 February 2018

Christie M Turcott

4

1 reference

12 February 2018

Maria P Guerra

5

1 reference

12 February 2018

Yaping Yang

7

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12 February 2018

publication date

1 June 2012

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12 February 2018

Journal of Child Neurology

published in

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12 February 2018

volume

27

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12 February 2018

issue

6

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12 February 2018

page(s)

811-814

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12 February 2018

Selective activation of cognate SNAREpins by Sec1/Munc18 proteins

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

Munc18a controls SNARE assembly through its interaction with the syntaxin N-peptide

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

Conformational switch of syntaxin-1 controls synaptic vesicle fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

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/10.1177%2F0883073811435246

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

Detection of clinically relevant exonic copy-number changes by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

Epilepsies and epileptic syndromes starting in the neonatal period

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

Intellectual disability without epilepsy associated with STXBP1 disruption

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811435246

21 January 2018

Identifiers

DOI

10.1177/0883073811435246

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12 February 2018

PubMed ID

22596016

1 reference

12 February 2018