February 27, 2014Neurology

A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1

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Population

A proband with Andersen-Tawil syndrome lacking KCNJ2 mutations; Xenopus oocytes for functional studies.

Comparison

Exome capture resequencing and functional… vs Wild-type Kir3.4.

Design

Preclinical

Authors

YKYosuke KokunaiCentre National de la Recherche Scientifique TNTomohiko NakataNagoya University MFMitsuru FurutaThe University of Osaka

Discussion

Member takes

Implication

KCNJ5 mutations may underlie Andersen-Tawil syndrome; leaves open human validation and clinical translation.

Structured PICO

Population

A proband with Andersen-Tawil syndrome (episodic flaccid weakness, characteristic TU-wave pattern) lacking KCNJ2 mutations; Xenopus oocytes for functional studies.

Intervention

Exome capture resequencing and functional expression of mutant Kir3.4 (KCNJ5 gene).

Comparator

Wild-type Kir3.4.

Outcome

Identification of causative gene mutation and its functional effect on inwardly rectifying potassium current.surrogate

KCNJ5 is identified as a novel causative gene for Andersen-Tawil syndrome, acting via an inhibitory effect of mutant Kir3.4 on Kir2.1 channels.

Cite This Study

Kokunai et al. (2014) studied this question.

synapsesocial.com/papers/6a89615b1fb56efa37d448ef https://doi.org/10.1212/wnl.0000000000000239

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A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1

Discussion

Member takes

Implication

Structured PICO

Cite This Study

A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider