PMC7438874_01
Interictal electroencephalogram demonstrating focal epileptiform discharges in centrotemporal area at the age of 5 years and 1 month.
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F1
At the age of 5 years and 1 month, EEG showed focal epileptiform discharges in centrotemporal area with activation during sleep (Figure 1), and brain magnetic resonance imaging was normal.
(A) The genetic map and the mutations sequence chromatograms in the KCNA2 gene. Black circle: affected mutation-carrying female; white circle: female without KCNA2 mutation; white square: male without KCNA2 mutation. The red circles indicated the location of the identified mutations. (B) Visualization of the output bam file on Integrate Genome Viewer software tool. KCNA2 gene region around the mutations c.1225A > T and c.1225A > C was analyzed with a 6950 x coverage; the sequence was shown in the forward strand. Vertical dotted lines showed the position relative to the missense mutations.
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F2
Sanger sequencing confirmed the presence of the mutations in the patient, but not in her parents, characterizing them as de novo (Figure 2A). Further NGS data at the loci of the mutations with a mean coverage of 6950 x showed 26% of the c.1225A > T mutation and 23% of the c.1225A > C mutation (Figure 2B).