(Q27349308)

25 June 2017

title

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures (English)

1 reference

25 June 2017

Deepak S Gill

9

0 references

Dana Craiu

Dana Craiu

7

0 references

Rhys H Thomas

Rhys H Thomas

1

0 references

Samuel Berkovic

Samuel F Berkovic

8

0 references

Ingrid Scheffer

11

Ingrid E Scheffer

1 reference

25 June 2017

10

Heather C Mefford

1 reference

25 June 2017

Lin Mei Zhang

2

1 reference

25 June 2017

Gemma L Carvill

3

1 reference

25 June 2017

John S Archer

4

1 reference

25 June 2017

Sinéad B Heavin

5

1 reference

25 June 2017

Simone A Mandelstam

6

1 reference

25 June 2017

EuroEPINOMICS RES Consortium

12

1 reference

25 June 2017

language of work or name

English

0 references

publication date

11 February 2015

1 reference

25 June 2017

1 reference

25 June 2017

volume

84

1 reference

25 June 2017

issue

9

1 reference

25 June 2017

page(s)

951-958

1 reference

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

25 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

De novo mutations in epileptic encephalopathies

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

CHD2 mutations in Lennox-Gastaut syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Genic intolerance to functional variation and the interpretation of personal genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Copy number variants in adult patients with Lennox-Gastaut syndrome features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Epilepsy in children--when should we think neurometabolic disease?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Photosensitivity--genetics and clinical significance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Centrencephalic Myoclonic-Astatic Petit Mal1– Clinical and genetic investigations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Valproic acid alters chromatin structure by regulation of chromatin modulation proteins

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

27 November 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351660

27 November 2018

https://pubmed.ncbi.nlm.nih.gov/25672921

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25672921

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000001305

1 reference

OpenCitations bibliographic resource ID

25 June 2017

3609458

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3609458

1 reference