title: Altered DNA copy number in patients with different seizure disorder type: by array-CGH.
abstract: Epilepsy is one of the most common but genetically complex neurological disorders in children. Previous studies have showed that chromosomal abnormalities confer susceptibility to epilepsy. To identify new chromosomal abnormalities associated with epilepsy, DNA samples from patients with idiopathic generalized epilepsy (IGE), partial epilepsy (PE), and febrile seizures (FS) were analyzed using array comparative genome hybridization technique (array-CGH). Genomic aberrations were detected throughout whole chromosome. The most frequently altered loci were gains noted in: 1p (60%), 5p (55%), 8q (55%), 10q (55%), and losses in 7q (55%). The most frequent chromosomal aberrations for each seizure type were: IGE-1p (60%), 5p (55%), and 10q (55%), PE-11p (45%), 21q (45%) and FS-8q (55%), and losses in 7q (55%). To validate the array-CGH results, real time PCR was performed for several genes (EPM2AIP1, OSM, AFP, CYP19A1, SLC6A13, and COL6A2). The results from the real time PCR were consistent with those from the array-CGH. Therefore, we found that the three types of seizures disorder studied have different chromosomal aberrations. These results might be used for further investigation of the pathogenesis of epilepsy.
authors.affiliation: Catholic Neuroscience Center, The Catholic University of Korea, Seoul 137-701, Republic of Korea.
authors.forename: Hye Sung
authors.initials: HS
authors.lastname: Kim
authors.forename: Sung-Vin
authors.initials: SV
authors.lastname: Yim
authors.forename: Kyung Hee
authors.initials: KH
authors.lastname: Jung
authors.forename: Long Tai
authors.initials: LT
authors.lastname: Zheng
authors.forename: Young-Hoon
authors.initials: YH
authors.lastname: Kim
authors.forename: Kweon-Haeng
authors.initials: KH
authors.lastname: Lee
authors.forename: Seung-Yun
authors.initials: SY
authors.lastname: Chung
authors.forename: Hyoung Kyun
authors.initials: HK
authors.lastname: Rha
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping / Q000379:methods*; D020732:Cytogenetic Analysis / Q000379:methods; D004827:Epilepsy / Q000145:classification* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D016133:Polymerase Chain Reaction