(Q46125040)

19 December 2017

title

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy (English)

1 reference

19 December 2017

Temple-Baraitser syndrome

main subject

1 reference

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

inferred from title

corrigendum / erratum

1 reference

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/NG0315-304B

author

Sean Grimmond

18

1 reference

19 December 2017

Glenn F King

20

1 reference

19 December 2017

Ben Cristofori-Armstrong

Ben Cristofori-Armstrong

5

0 references

Linlin Ma

Linlin Ma

4

0 references

Cas Simons

Cas Simons

1

0 references

Gregory Baillie

Gregory J Baillie

8

0 references

Lachlan D. Rash

Lachlan D Rash

2

0 references

Julie McGaughran

Julie McGaughran

19

0 references

Joanna Crawford

Joanna Crawford

3

0 references

Alain Verloes

12

Alain Verloes

1 reference

19 December 2017

6

David Miller

1 reference

19 December 2017

John G. Cleary

17

John G Cleary

1 reference

19 December 2017

author name string

Kelin Ru

7

1 reference

19 December 2017

Yasemin Alanay

9

1 reference

19 December 2017

Adeline Jacquinet

10

1 reference

19 December 2017

François-Guillaume Debray

11

1 reference

19 December 2017

Joseph Shen

13

1 reference

19 December 2017

Gözde Yesil

14

1 reference

19 December 2017

Serhat Guler

15

1 reference

19 December 2017

Adnan Yuksel

16

1 reference

19 December 2017

Michael T Gabbett

21

1 reference

19 December 2017

Ryan J Taft

22

1 reference

19 December 2017

language of work or name

English

0 references

publication date

24 November 2014

1 reference

19 December 2017

published in

Nature Genetics

1 reference

19 December 2017

volume

47

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19 December 2017

issue

1

1 reference

19 December 2017

page(s)

73-77

1 reference

19 December 2017

https://scigraph.springernature.com/pub.10.1038/ng.3153

exact match

0 references

cites work

Severe mental retardation and absent nails of Hallux and Pollex

1 reference

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

Parental SCN1A mutation mosaicism in familial Dravet syndrome

21 January 2018

1 reference

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

21 January 2018

1 reference

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

21 January 2018

1 reference

Somatic mutations in cerebral cortical malformations

21 January 2018

1 reference

Temple-Baraitser syndrome: A rare and possibly unrecognized condition

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

Overexpression of Eag1 potassium channels in clinical tumours.

21 January 2018

1 reference

Potassium channels in cell cycle and cell proliferation.

21 January 2018

1 reference

Regulation of cell proliferation of human induced pluripotent stem cell-derived mesenchymal stem cells via ether-à-go-go 1 (hEAG1) potassium channel.

21 January 2018

1 reference

Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

1 reference

Potassium channels: structures, diseases, and modulators

21 January 2018

1 reference

Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice

21 January 2018

1 reference

K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy

21 January 2018

1 reference

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

21 January 2018

1 reference

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

1 reference

Mutations in KCND3 cause spinocerebellar ataxia type 22.

21 January 2018

1 reference

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

21 January 2018

1 reference

Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

Somatic mutation, genomic variation, and neurological disease

21 January 2018

1 reference

Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data

21 January 2018

1 reference

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

21 January 2018

1 reference

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

21 January 2018

1 reference

Trimmomatic: a flexible trimmer for Illumina sequence data

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

21 January 2018

1 reference

Chemical synthesis, 3D structure, and ASIC binding site of the toxin mambalgin-2

21 January 2018

1 reference

Tuning of EAG K(+) channel inactivation: molecular determinants of amplification by mutations and a small molecule

21 January 2018

1 reference

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

Monoclonal Antibody Blockade of the Human Eag1 Potassium Channel Function Exerts Antitumor Activity

21 January 2018

1 reference

A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)

21 January 2018

1 reference

7 January 2021

inferred from DOI database lookup

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

1 reference

7 January 2021

inferred from DOI database lookup

Report of a patient with Temple-Baraitser syndrome

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.3153

1 reference

19 December 2017

Dimensions Publication ID

0 references

1 reference

19 December 2017