(Q24602558)

24 June 2017

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

1 reference

24 June 2017

31

1 reference

24 June 2017

24

Tally Lerman-Sagie

1 reference

24 June 2017

Jacinta M McMahon

4

0 references

Deepak Gill

Deepak Gill

27

0 references

Brian J O'Roak

Brian J O'Roak

5

0 references

Ingrid Scheffer

Ingrid E Scheffer

33

0 references

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

1 reference

24 June 2017

language of work or name

English

0 references

publication date

26 May 2013

1 reference

24 June 2017

1 reference

24 June 2017

45

1 reference

24 June 2017

825-830

1 reference

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