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. 2019 Nov 1;19:400. doi: 10.1186/s12887-019-1796-9

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© The Author(s). 2019

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 3 — Characterization of SCN8A (c.3953A > G) mutation. a Sanger sequencing confirms SCN8A (c.3953A > G) mutation. b The down-stream altered amino acid caused by the missense mutation is in a highly-conserved area. c This mutation is located in the internal S4-S5 linker of the DIII of SCN8A protein