@article{4b63aaddebcf4f6986ad296ddd2b4dbd,
title = "Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome",
abstract = "Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We have mapped an Andersen's locus to chromosome 17q23 (maximum LOD = 3.23 at θ = 0 near the inward rectifying potassium channel gene KCNJ2. A missense mutation in KCNJ2 (encoding D71V) was identified in the linked family. Eight additional mutations were identified in unrelated patients. Expression of two of these mutations in Xenopus oocytes revealed loss of function and a dominant negative effect in Kir2.1 current as assayed by voltage-clamp. We conclude that mutations in Kir2.1 cause Andersen's syndrome. These findings suggest that Kir2.1 plays an important role in developmental signaling in addition to its previously recognized function in controlling cell excitability in skeletal muscle and heart.",
author = "Plaster, {Nikki M.} and Rabi Tawil and Martin Tristani-Firouzi and Sonia Can{\'u}n and Sad Bendahhou and Akiko Tsunoda and Donaldson, {Matthew R.} and Iannaccone, {Susan T.} and Ewout Brunt and Richard Barohn and John Clark and Feza Deymeer and George, {Alfred L.} and Fish, {Frank A.} and Angelika Hahn and Alexandru Nitu and Coskun Ozdemir and Piraye Serdaroglu and Subramony, {S. H.} and Gil Wolfe and Fu, {Ying Hui} and Pt{\'a}{\v c}ek, {Louis J.}",
note = "Funding Information: The authors are grateful to the families who participated in this work and to Anthea Letsou, Robert Ruff, and Mike Sanguinetti for helpful discussions and critical review of this manuscript. We thank Carol Vandenberg for the Kir 2.1 cDNA clone, Monica Lin, Catherine McKenna, Judy Jensen, Linda Ballard, and the Genomics Core Facility of the Huntsman Cancer Institute for technical assistance. This investigation was supported by the Muscular Dystrophy Association (L.J.P. and R.T.), NIH grant NS38616 (Y-H.F. and L.J.P.), and Public Health Service research grant M01-RR00064 from the National Center for Research Resources. L.J.P. is an Investigator of the Howard Hughes Medical Institute.",
year = "2001",
month = may,
day = "18",
doi = "10.1016/S0092-8674(01)00342-7",
language = "English (US)",
volume = "105",
pages = "511--519",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "4",
}