De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (Q38714406)

5 September 2017

title

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (English)

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5 September 2017

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Yasunari Sakai

4

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Hirotomo Saitsu

object named as

Hirotomo Saitsu

2

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Yoshinori Tsurusaki

object named as

Yoshinori Tsurusaki

3

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author name string

Ryoko Fukai

1

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5 September 2017

Kazuhiro Haginoya

5

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5 September 2017

Kazumasa Takahashi

6

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5 September 2017

Monika Weisz Hubshman

7

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5 September 2017

Nobuhiko Okamoto

8

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5 September 2017

Mitsuko Nakashima

9

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5 September 2017

Fumiaki Tanaka

10

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5 September 2017

Noriko Miyake

11

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5 September 2017

Naomichi Matsumoto

12

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5 September 2017

publication date

28 January 2016

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Journal of Human Genetics

5 September 2017

published in

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5 September 2017

volume

61

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5 September 2017

issue

5

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5 September 2017

page(s)

381-387

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International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels

5 September 2017

cites work

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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

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

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

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Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state.

21 January 2018

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Characterization of Eag1 channel lateral mobility in rat hippocampal cultures by single-particle-tracking with quantum dots

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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

21 January 2018

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Functional K(v)10.1 channels localize to the inner nuclear membrane

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Kcnh1 voltage-gated potassium channels are essential for early zebrafish development

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Structure, function, and modification of the voltage sensor in voltage-gated ion channels

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Glycine and beta-branched residues support and modulate peptide helicity in membrane environments

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Investigating the putative glycine hinge in Shaker potassium channel.

21 January 2018

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Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

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PubMed

https://pubmed.ncbi.nlm.nih.gov/26818738

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Functional expression of a rat homologue of the voltage gated either á go-go potassium channel reveals differences in selectivity and activation kinetics between the Drosophila channel and its mammalian counterpart

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26818738

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2016.1

1 reference

release_o6p3inrejzg3vjgz5goti7hjiy

5 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/o6p3inrejzg3vjgz5goti7hjiy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference