Management and treatment of Andersen-Tawil syndrome (ATS). (Q34613764)

3 August 2017

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title

Management and treatment of Andersen-Tawil syndrome (ATS). (English)

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3 August 2017

main subject

Andersen-Tawil syndrome

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2

Rabi Tawil

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3 August 2017

Valeria Sansone

1

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3 August 2017

publication date

1 April 2007

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3 August 2017

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3 August 2017

volume

4

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3 August 2017

issue

2

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3 August 2017

page(s)

233-237

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Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?

3 August 2017

cites work

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Andersen's syndrome: A distinct periodic paralysis

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Andersen syndrome autosomal dominant in three generations

21 January 2018

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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

21 January 2018

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Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

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KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes

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21 January 2018

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Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

21 January 2018

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A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome

21 January 2018

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Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome

21 January 2018

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PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

21 January 2018

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Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome

21 January 2018

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Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome

21 January 2018

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Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity

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12 December 2020

Andersen-Tawil syndrome: definition of a neurocognitive phenotype

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Electromyography guides toward subgroups of mutations in muscle channelopathies.

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A family with Andersen-Tawil syndrome and dilated cardiomyopathy

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Identifiers

DOI

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Dimensions Publication ID

3 August 2017

1015079427

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Fatcat ID

release_wpn4etyqtngwbcycm72tryxiae

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Fatcat

https://api.fatcat.wiki/v0/release/wpn4etyqtngwbcycm72tryxiae

24 November 2022

mapped directly with Wikidata item

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