A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1

Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-of-function mutations in the same channel cau...

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Bibliographic Details
Main Authors: Anna Binda, Ilaria Rivolta, Chiara Villa, Elisa Chisci, Massimiliano Beghi, Cesare M. Cornaggia, Roberto Giovannoni, Romina Combi
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-03-01
Series:Frontiers in Cellular Neuroscience
Subjects:
autism spectrum disorders
KCNJ2
potassium channel
mutation
patch clamp
single channel
Online Access:http://journal.frontiersin.org/article/10.3389/fncel.2018.00076/full

Internet

http://journal.frontiersin.org/article/10.3389/fncel.2018.00076/full

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