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Table 2 Results of mutation analysis in 3 patients with pathogenic or likely pathogenic copy number variations

From: Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing

Patient Affected region Duplication/Deletion Size Major genes involved in the region Additional study Result of the additional study Zygosity Suspected syndrome Phenotypic correlation
P26 14q11.2-q12 Duplication 12 Mb FOXG1, CHD8, SUPT16H array CGH arr 14q11.2(20,528,528–32,297,926)×3 Heterozygosity Not availablea Early onset of infantile spasms,Developmental delay
P27 15q11.2 Deletion 3.5 Mb UBE3A, GABRB3, SNRPN MLPA Deletion of maternal allele Heterozygosity Angelman syndrome Distinctive electro-encephalography patternc
P28 19p13.3 Duplication 2.5 Mb Not specific epilepsy-associated genes array CGH arr 19p13.3(3,462,574–6,583,781)×3 Heterozygosity 19p13.3 microduplication syndromeb Distinctive facial dysmorphism
  1. a No definitive syndrome was suggested until the two most recent literatures [22, 23]
  2. b New microduplication syndrome was suggested by Carmen et al. [24]
  3. c High amplitude rhythmic 4–6 Hz activity, prominent in the occipital or frontal regions with spikes