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. 2020 Jun 24;10:10288. doi: 10.1038/s41598-020-67215-y

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Overview of the studied mutants – localisation, evolution conservation, variant prediction. (A) Topology diagram of SCN1A variants. Schematic representation of the sodium channel molecular complex illustrating the location and amino acid substitution of the studied SCN1A variants. (B) The amino acid sequence alignment of the Na_v α-subunit family, showing the evolutionary conservation of the residues (boxed). E78, D249, E788, M909, E1587, R1596, and T1934 are shown in bold. Residues that are identical to the SCN1A sequence are displayed as dots. The conservation scoring was performed by PRALINE. The scoring scheme works from 0 for the least conserved alignment position, up to 10 for the most conserved alignment position. Conservation in all studied sequences is marked as *. (C) The results of SCN1A variant prediction by Meta-SNP and PredictSNP. “Neutral” referred to a neutral variant, “Disease” and “Deleterious” to disease-causing variants. The variant was predicted to be disease-causing when Meta-SNP predictions were >0.5. The percentages are the expected prediction accuracies by PredictSNP.