(Q24621776)

21 June 2017

De novo mutations in epileptic encephalopathies (English)

1 reference

21 June 2017

8

Evan E Eichler

1 reference

21 June 2017

Slavé Petrovski

26

1 reference

21 June 2017

Renée A Shellhaas

70

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21 June 2017

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

1 reference

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79

Eileen P G Vining

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57

Eric H Kossoff

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ORCID Public Data File 2021

21 June 2017

1 reference

Maura R. Z. Ruzhnikov

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ORCID Public Data File 2021

Patrick Cossette

5

Patrick Cossette

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21 June 2017

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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28

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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21 June 2017

Yujun Han

12

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21 June 2017

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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21 June 2017

Yi-Fan Lu

19

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21 June 2017

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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21 June 2017

Christopher J Yuskaitis

31

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Bassel Abou-Khalil

32

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21 June 2017

Brian K Alldredge

33

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21 June 2017

Jocelyn F Bautista

34

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21 June 2017

Alex Boro

36

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Gregory D Cascino

37

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21 June 2017

Damian Consalvo

38

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Patricia Crumrine

39

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Miguel Fiol

43

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21 June 2017

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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21 June 2017

Sandra L Helmers

52

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21 June 2017

Sucheta Joshi

53

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21 June 2017

Andres Kanner

54

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21 June 2017

Heidi E Kirsch

55

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21 June 2017

Robert C Knowlton

56

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21 June 2017

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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21 June 2017

Juliann M Paolicchi

65

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21 June 2017

Jack M Parent

66

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21 June 2017

Kristen Park

67

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21 June 2017

Jerry J Shih

72

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21 June 2017

Rani Singh

73

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21 June 2017

Joseph Sirven

74

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21 June 2017

Michael C Smith

75

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21 June 2017

Joseph Sullivan

76

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21 June 2017

Liu Lin Thio

77

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21 June 2017

Anu Venkat

78

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21 June 2017

Gretchen K Von Allmen

80

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21 June 2017

Judith L Weisenberg

81

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21 June 2017

Peter Widdess-Walsh

82

1 reference

21 June 2017

Melodie R Winawer

83

1 reference

21 June 2017

Epi4K Consortium

1

1 reference

21 June 2017

Epilepsy Phenome/Genome Project

2

1 reference

21 June 2017

Dennis Dlugos

41

1 reference

21 June 2017

Michael P Epstein

42

1 reference

21 June 2017

Tracy Glauser

48

1 reference

21 June 2017

Ruben Kuzniecky

59

1 reference

21 June 2017

Ruth Ottman

64

1 reference

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Elliott H Sherr

71

1 reference

21 June 2017

language of work or name

English

0 references

publication date

11 August 2013

1 reference

21 June 2017

5

1 reference

inferred from page(s)

published in

Nature

1 reference

21 June 2017

501

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21 June 2017

7466

1 reference

21 June 2017

217-221

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

21 June 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 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

1 reference