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. 2015 May 16;138(7):1817–1832. doi: 10.1093/brain/awv117

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© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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A novel de novo mutation predicted to affect the S4 voltage-sensor of K_v3.3. (A) The high degree of amino acid conservation (asterisk) in the voltage-sensor S4 helix and S4-S4 linker region of human K_v3.3 and related species. This region is also highly conserved in the paralogous channels KCNC1 (K_v3.1) and KCNC2 (K_v3.2). Threonine 428 in KCNC3 (K_v3.3) is highlighted in grey and is absolutely conserved between species. (B) Sanger sequencing of the patient and parents to show that the heterozygous mutation is de novo. (C) A structural model of this region in K_v3.3 with the predicted location of the T428I mutation. The conserved voltage-sensing arginine and lysine residues are also shown.