Gene analysis of West syndrome using genome copy number variation

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To clarify genetic background of West syndrome, genome copy number variations were studied in 51 cases of West syndrome with minor anomalies and development delay by the microarray CGH method.The abnormalities of genome copy number were detected in three cases of those. One of those copy number abnormalities includes a gene reported in a case with epilepsy and mental retardation. By screening of all exons using high resolution melting (HRM), a gene mutation associated with epilepsy and cortical dysplasia was detected in the gene.