JLE

Epileptic Disorders

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De novo 8p23.1 deletion in a patient with absence epilepsy Volume 19, numéro 2, June 2017

Figure 1

EEG recorded at age 9 years showing bilateral generalized 3-Hz spike and slow-wave discharges.

Figure 2

SNP signal intensity log2 ratios and B allele frequencies (BAF) of the father (top left), the mother (top right), and the offspring (centre). The 8p23.1 deletion in the offspring shows a segment of 1,100 markers with decreased log2 ratios and complete loss of heterozygosity. The red line shows the minimal critical region of the deletion. Genomic organization of UCSC genes are indicated below. Small arrows point to MIR597 and XKR6.