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DNA sequencing results for mutation c.1636A > G of human seizure-related gene 6.
(A) Control. ACA (red box) indicates the normal codon.
(B) Heterozygous form (the double peak. arrow) of this mutation from a male juvenile myoclonic epilepsy patient.
(C) Homozygous form of this mutation from the juvenile myoclonic epilepsy patient's first-degree relative. Codon ACA was substituted by GCA (red box), which resulted in an amino acid change from threonine to alanine.
