(Q55023793)

15 June 2018

title

New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. (English)

1 reference

15 June 2018

Nicolaides–Baraitser syndrome

main subject

1 reference

S Tang

1

1 reference

15 June 2018

E Hughes

2

1 reference

15 June 2018

K Lascelles

3

1 reference

15 June 2018

EuroEPINOMICS RES myoclonic astatic epilepsy working group

4

1 reference

15 June 2018

M A Simpson

5

1 reference

15 June 2018

D K Pal

6

1 reference

15 June 2018

language of work or name

English

0 references

publication date

26 September 2016

1 reference

15 June 2018

American Journal of Medical Genetics

published in

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15 June 2018

volume

173

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15 June 2018

issue

1

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15 June 2018

page(s)

195-199

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15 June 2018

The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

The role of BAF (mSWI/SNF) complexes in mammalian neural development

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

Phenotype and genotype in Nicolaides-Baraitser syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

Coffin-Siris syndrome is a SWI/SNF complex disorder

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

An unusual syndrome with mental retardation and sparse hair

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

Centrencephalic Myoclonic-Astatic Petit Mal1– Clinical and genetic investigations

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5516167

An unusual syndrome with mental retradation and sparse hair

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37935

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37935

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37935

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37935

1 reference

15 June 2018

PMC publication ID

5516167

1 reference

15 June 2018

PubMed publication ID

27665729

1 reference

15 June 2018