Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (Q24602558)

24 June 2017

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

1 reference

24 June 2017

31

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24 June 2017

24

Tally Lerman-Sagie

1 reference

24 June 2017

Jacinta M McMahon

4

0 references

Deepak Gill

Deepak Gill

27

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Brian J O'Roak

Brian J O'Roak

5

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Ingrid Scheffer

Ingrid E Scheffer

33

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Samuel Berkovic

Samuel F Berkovic

32

0 references

Amos D. Korczyn

Amos Korczyn

21

0 references

Dorit Lev

25

Dorit Lev

1 reference

24 June 2017

30

Lynette G Sadleir

1 reference

24 June 2017

34

Heather C Mefford

1 reference

24 June 2017

1

Gemma L Carvill

1 reference

24 June 2017

26

Rikke S Møller

1 reference

24 June 2017

3

Simone C Yendle

1 reference

24 June 2017

7

Adiba Khan

1 reference

24 June 2017

8

Michael O Dorschner

1 reference

24 June 2017

13

Thorsten Stanley

1 reference

24 June 2017

17

Sara Kivity

1 reference

24 June 2017

22

Zaid Afawi

1 reference

24 June 2017

Sinéad B Heavin

2

1 reference

24 June 2017

Joseph Cook

6

1 reference

24 June 2017

Molly Weaver

9

1 reference

24 June 2017

Sophie Calvert

10

1 reference

24 June 2017

Stephen Malone

11

1 reference

24 June 2017

Geoffrey Wallace

12

1 reference

24 June 2017

Ann M E Bye

14

1 reference

24 June 2017

Andrew Bleasel

15

1 reference

24 June 2017

Katherine B Howell

16

1 reference

24 June 2017

Mark T Mackay

18

1 reference

24 June 2017

Victoria Rodriguez-Casero

19

1 reference

24 June 2017

Richard Webster

20

1 reference

24 June 2017

Nathanel Zelnick

23

1 reference

24 June 2017

Danielle M Andrade

28

1 reference

24 June 2017

Jeremy L Freeman

29

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24 June 2017

language of work or name

English

0 references

publication date

26 May 2013

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24 June 2017

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24 June 2017

45

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24 June 2017

825-830

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24 June 2017

7

1 reference

Clinical application of exome sequencing in undiagnosed genetic conditions

24 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Patterns and rates of exonic de novo mutations in autism spectrum disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

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

7 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

7 April 2017

https://api.crossref.org/works/10.1038/NG.2646

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Sodium channels and the neurobiology of epilepsy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

A genetic diagnostic approach to infantile epileptic encephalopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Genes of early-onset epileptic encephalopathies: from genotype to phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Rare copy number variants are an important cause of epileptic encephalopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Mutations in prickle orthologs cause seizures in flies, mice, and humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

The Chd family of chromatin remodelers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Diagnostic exome sequencing in persons with severe intellectual disability

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

A de novo paradigm for mental retardation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

De novo mutations in SYNGAP1 associated with non-syndromic mental retardation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3704157

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23708187

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical genetic study of the epilepsy-aphasia spectrum

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2646

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.2646

1 reference

Dimensions Publication ID

24 June 2017

1008791569

0 references

OpenCitations bibliographic resource ID

704151

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference