Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. (Q38853247)

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16 March 2020

title

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders (English)

1 reference

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16 March 2020

main subject

phenotypic heterogeneity

1 reference

2

1 reference

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16 March 2020

Silvia Masnada

4

1 reference

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16 March 2020

Guido Rubboli

5

1 reference

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16 March 2020

Elena Gardella

6

1 reference

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16 March 2020

Laurent Villard

10

1 reference

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16 March 2020

Elena Fontana

39

1 reference

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16 March 2020

Federico Zara

40

1 reference

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16 March 2020

Laila A Selim

65

1 reference

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16 March 2020

Nicola Specchio

72

1 reference

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16 March 2020

Sarah Weckhuysen

79

1 reference

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16 March 2020

Rikke S Møller

85

1 reference

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16 March 2020

33

Tobias Loddenkemper

1 reference

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16 March 2020

11

Alexandra Afenjar

1 reference

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16 March 2020

75

Katherine L Helbig

1 reference

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16 March 2020

27

Kees P Braun

1 reference

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16 March 2020

32

Thomas Bast

1 reference

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16 March 2020

83

Gerhard Kluger

1 reference

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16 March 2020

23

Eva Brilstra

1 reference

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16 March 2020

31

Miriam Döcker

1 reference

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16 March 2020

29

Saskia Biskup

1 reference

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16 March 2020

1

Markus Wolff

1 reference

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16 March 2020

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Marina Trivisano

1 reference

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16 March 2020

7

Gaetan Lesca

1 reference

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16 March 2020

13

Cyril Mignot

1 reference

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16 March 2020

15

Caroline Nava

1 reference

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16 March 2020

19

Diane Doummar

1 reference

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16 March 2020

25

Nienke Verbeek

1 reference

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16 March 2020

26

Marjan van Kempen

1 reference

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16 March 2020

37

Pasquale Striano

1 reference

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16 March 2020

Thomas Schmitt-Mechelke

46

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Thomas Schmitt-Mechelke

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16 March 2020

48

Hiltrud Muhle

1 reference

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16 March 2020

68

Marina Nikanorova

1 reference

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16 March 2020

74

Thomas Dorn

1 reference

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16 March 2020

84

Holger Lerche

1 reference

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16 March 2020

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Johannes R Lemke

1 reference

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16 March 2020

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Peter de Jonghe

1 reference

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16 March 2020

76

Katia Hardies

1 reference

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16 March 2020

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Hannah Stamberger

1 reference

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16 March 2020

3

Ulrike B S Hedrich

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16 March 2020

66

Rudy Van Coster

1 reference

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16 March 2020

73

Berten Ceulemans

1 reference

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16 March 2020

9

Mathieu Milh

1 reference

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16 March 2020

28

Grazia Mancini

1 reference

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16 March 2020

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Konstanze Hörtnagel

1 reference

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16 March 2020

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Robertino Dilena

1 reference

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16 March 2020

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Gerhard Kurlemann

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16 March 2020

45

Nicolas Deconinck

1 reference

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16 March 2020

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Damien Lederer

1 reference

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16 March 2020

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Lieven Lagae

1 reference

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16 March 2020

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G Christoph Korenke

1 reference

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16 March 2020

Sandra Chantot-Bastaraud

12

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Sandra Chantot-Bastaraud

1 reference

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16 March 2020

author name string

Dorothée Ville

8

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16 March 2020

Caroline Lardennois

14

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16 March 2020

Niklas Schwarz

16

1 reference

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16 March 2020

Marion Gérard

17

1 reference

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16 March 2020

Laurence Perrin

18

1 reference

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16 March 2020

Stéphane Auvin

20

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16 March 2020

Maria J Miranda

21

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16 March 2020

Maja Hempel

22

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16 March 2020

Nine Knoers

24

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16 March 2020

Lily Wong-Kisiel

34

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16 March 2020

Friedrich M Baumeister

35

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16 March 2020

Walid Fazeli

36

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16 March 2020

Joerg Klepper

42

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16 March 2020

Jess G Thoene

43

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16 March 2020

Daniel H Arndt

44

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16 March 2020

Oliver Maier

47

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16 March 2020

Beverly Wical

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16 March 2020

Claudio Finetti

50

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Reinhard Brückner

51

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Joachim Pietz

52

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16 March 2020

Günther Golla

53

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16 March 2020

Dinesh Jillella

54

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Karen M Linnet

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Perrine Charles

56

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16 March 2020

Ute Moog

57

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16 March 2020

Eve Õiglane-Shlik

58

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John F Mantovani

59

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16 March 2020

Kristen Park

60

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16 March 2020

Marie Deprez

61

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16 March 2020

Sandrine Mary

63

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16 March 2020

Emmanuel Scalais

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16 March 2020

Ingo Helbig

82

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16 March 2020

Helle Hjalgrim

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16 March 2020

Ingeborg Krägeloh-Mann

81

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language of work or name

English

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publication date

1 May 2017

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16 March 2020

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16 March 2020

volume

140

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16 March 2020

issue

5

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16 March 2020

page(s)

1316-1336

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16 March 2020

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21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Acute encephalopathy with a novel point mutation in the SCN2A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Clinical application of exome sequencing in undiagnosed genetic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

De novo KCNT1 mutations in early-onset epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Lidocaine-dependent early infantile status epilepticus with highly suppressed EEG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Protein-protein interactions involving voltage-gated sodium channels: Post-translational regulation, intracellular trafficking and functional expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Sodium channels SCN1A, SCN2A and SCN3A in familial autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX054

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWX054

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28379373%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

1 reference