A preliminary study of genetic analysis of surgical specimens from patients with focal cortical dysplasia.

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CCortical dysplasia is a congenital anomaly, often causing intractable epilepsy in children and greatly affecting their development. A clear understanding of the underlying cause is necessary for developing treatment and prevention strategies for cortical dysplasia. We postulated that cortical dysplasia is caused by somatic mutations in cortical neurons at a certain stage of embryonic development. Based on this hypothesis, we attempted to compare the genome of cortical dysplasia tissue and healthy tissue from the same patient. Array comparative genomic hybridization (array CGH) and whole-exome sequencing were performed using DNA from the lesion and healthy blood samples from the same patient. Array CGH and exome sequencing failed to detect causal chromosomal abnormalities or causal genes. We surmise that to detect genetic abnormalities in patients with cortical dysplasia, lesions with a high incidence of somatic mutations should be used for genetic analysis.