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Brain Advance Access originally published online on May 8, 2009
Brain 2009 132(7):1690-1692; doi:10.1093/brain/awp120
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© The Author (2009). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Scientific Commentary

Sodium channelopathy of peripheral nerve: tightening the genotype–phenotype relationship

Stephanie Schorge and Dimitri M. Kullmann

UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK E-mail: s.schorge@ion.ucl.ac.uk

The first 10% of the full text of this article appears below.

Among proteins involved in neurological disease, ion channels are amenable to the most detailed characterization: patch clamp methods allow the opening and closing of individual channels to be documented at millisecond resolution in response to precisely delivered stimuli (whether electrical or pharmacological). In theory, therefore, inherited disorders of ion channels should be ideal candidates to link the functional consequences of individual mutations at the molecular level to their clinical manifestations. Disappointingly, it has been difficult to ‘explain’ the phenotype of many CNS channelopathies: even where disease–associated mutations exert robust effects on ion channel properties studied in vitro, a full account of the occurrence of hemiplegic migraine, seizures, . . . [Full Text of this Article]


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