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

BMC Medical Genomics

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

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 available^a	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 pattern^c
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 syndrome^b	Distinctive facial dysmorphism

^a No definitive syndrome was suggested until the two most recent literatures [22, 23]
^b New microduplication syndrome was suggested by Carmen et al. [24]
^c High amplitude rhythmic 4–6 Hz activity, prominent in the occipital or frontal regions with spikes

ISSN: 1755-8794