June 10, 2003Neurology

PIP 2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome

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Population

17 probands presenting with symptoms characteristic of Andersen-Tawil syndrome, combined with previously…

Design

Case_series

Authors

MDMatthew R. DonaldsonIntermountain Healthcare JJJudy L. JensenUniversity of Utah MTMartin Tristani‐FirouziUniversity of Maryland, Baltimore

Discussion

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Implication

Supports PIP2-binding defects as major ATS mechanism; leaves open screening utility pending prospective validation.

Structured PICO

Population

17 probands presenting with symptoms characteristic of Andersen-Tawil syndrome (ATS), combined with previously studied subjects for a total of 29 KCNJ2-based probands.

Intervention

Clinical evaluation and genetic screening for mutations in the KCNJ2 gene.

Outcome

Identification and frequency of KCNJ2 mutations causing ATS.

Defects in PIP2 binding due to KCNJ2 mutations constitute a major pathogenic mechanism of Andersen-Tawil syndrome, supporting the utility of genetic screening for diagnosis.

Cite This Study

Donaldson et al. (2003) studied this question.

synapsesocial.com/papers/6a89aa5ee0083a7c2c43427a https://doi.org/10.1212/01.wnl.0000072261.14060.47

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PIP 2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

PIP 2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider