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. 2016 Dec 27;10(1):53–58. doi: 10.14802/jmd.16044

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Copyright © 2017 The Korean Movement Disorder Society

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 1. — A pedigree of a Korean family with hyperekplexia (A). An arrow indicates the proband. Selected sequences from GLRA1 exon 7 indicating the c.896G>A mutation using reverse primers (B). The results of systematic review of the literature regarding hyperekplexia caused by GLRA1 mutation are shown with respect to percentage of clinical features (C) and types and locations of mutations with mode of inheritance (D) and ethnicity (E). In the percentage bar graph (C), blue refers to present, red refers to absent, and green means not available. Numbers beside the bars in graph D represent number of cases with the specified mutation. NA: not available, AD: autosomal dominant, AR: autosomal recessive.