(Q24621776)

21 June 2017

title

De novo mutations in epileptic encephalopathies (English)

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21 June 2017

8

Evan E Eichler

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21 June 2017

Slavé Petrovski

26

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Renée A Shellhaas

70

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Edward J Novotny

63

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Jacqueline French

Jacqueline French

45

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Terence J O'Brien

Terence J O'Brien

24

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Orrin Devinsky

Orrin Devinsky

40

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Ingrid Scheffer

29

69

Ingrid E Scheffer

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Eileen P G Vining

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57

Eric H Kossoff

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ORCID Public Data File 2021

21 June 2017

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Maura R. Z. Ruzhnikov

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ORCID Public Data File 2021

Patrick Cossette

5

Patrick Cossette

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27

Annapurna Poduri

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68

Annapurna Poduri

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22

Heather C Mefford

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4

Samuel F Berkovic

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35

Samuel F Berkovic

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18

Daniel H Lowenstein

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60

Daniel H Lowenstein

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3

Andrew S Allen

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11

David B Goldstein

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13

Erin L Heinzen

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21

Anthony G Marson

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Elizabeth K Ruzzo

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Norman Delanty

6

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Dennis Dlugos

7

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Michael P Epstein

9

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Tracy Glauser

10

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Yujun Han

12

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Yuki Hitomi

14

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Katherine B Howell

15

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Michael R Johnson

16

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Ruben Kuzniecky

17

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Yi-Fan Lu

19

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Maura R Z Madou

20

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Sahar Esmaeeli Nieh

23

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Ruth Ottman

25

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Elliott H Sherr

30

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Christopher J Yuskaitis

31

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Bassel Abou-Khalil

32

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Brian K Alldredge

33

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Jocelyn F Bautista

34

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Alex Boro

36

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Gregory D Cascino

37

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Damian Consalvo

38

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Patricia Crumrine

39

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Miguel Fiol

43

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Nathan B Fountain

44

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Daniel Friedman

46

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Eric B Geller

47

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Simon Glynn

49

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Sheryl R Haut

50

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Jean Hayward

51

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Sandra L Helmers

52

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Sucheta Joshi

53

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Andres Kanner

54

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Heidi E Kirsch

55

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Robert C Knowlton

56

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Rachel Kuperman

58

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21 June 2017

Shannon M McGuire

61

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21 June 2017

Paul V Motika

62

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Juliann M Paolicchi

65

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Jack M Parent

66

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Kristen Park

67

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Jerry J Shih

72

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Rani Singh

73

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Joseph Sirven

74

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Michael C Smith

75

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Joseph Sullivan

76

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Liu Lin Thio

77

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Anu Venkat

78

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Gretchen K Von Allmen

80

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Judith L Weisenberg

81

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Peter Widdess-Walsh

82

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Melodie R Winawer

83

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Epi4K Consortium

1

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21 June 2017

Epilepsy Phenome/Genome Project

2

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21 June 2017

Dennis Dlugos

41

1 reference

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Michael P Epstein

42

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Tracy Glauser

48

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Ruben Kuzniecky

59

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Ruth Ottman

64

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Elliott H Sherr

71

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21 June 2017

language of work or name

English

0 references

publication date

11 August 2013

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21 June 2017

number of pages

5

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inferred from page(s)

published in

Nature

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21 June 2017

volume

501

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21 June 2017

issue

7466

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21 June 2017

page(s)

217-221

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Rate of de novo mutations and the importance of father's age to disease risk

21 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=3773011

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and 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=3773011

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

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=3773011

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

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=3773011

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=3773011

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=3773011

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association 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=3773011

De Novo Gene Disruptions in Children on the Autistic Spectrum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

The epilepsy phenome/genome project.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in 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=3773011

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

Epilepsy and the new cytogenetics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence 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=3773011

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile 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=3773011

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

Neocortical neurogenesis in humans is restricted to development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3773011

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

27 September 2017

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12439

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12439

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12439

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12439

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12439

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23934111

12 December 2020

inferred from PubMed ID database lookup

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23934111

12 December 2020

inferred from PubMed ID database lookup

Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12439

7 January 2021

inferred from DOI database lookup

Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes.

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12439

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NATURE12439

1 reference

Dimensions Publication ID

21 June 2017

1003744287

0 references

OpenCitations bibliographic resource ID

774801

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

774801

1 reference