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. 2012 Jan 15;7(2):96–100. doi: 10.3969/j.issn.1673-5374.2012.02.003

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Copyright: © Neural Regeneration Research

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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DNA sequencing results for mutation c.1807G > A within exon 8 of human seizure-related gene 6.

(A) Control. GTG (red box) indicates the normal codon.

(B) A heterozygous missense mutation G→A (the double peak, arrow) was identified at position 1807 in a late-onset IGE patient, which resulted in an amino acid change from valine to methionine.

(C) Valine 603 is an evolutionarily invariant in the paralogous human seizure-related gene 6 family and in homologous from other species (cow, mouse and Xenopus).