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

• Project/Area Number: 23791620
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Cerebral neurosurgery
• Research Institution: National Center of Neurology and Psychiatry
• Principal Investigator: SAITO Takashi 独立行政法人国立精神・神経医療研究センター, 病院, 医師 (10532533)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000); Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 皮質形成異常 / てんかん / 皮質形成異常症 / 難治性てんかん / 難治てんかん

Research Abstract

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.

Research Products

• [Journal Article] Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study. (2013)
  • Author(s): Saito T, Saito Y, Sugai K, Nakagawa E, Komaki H, Okazaki T, Ishido Y, Kaneko Y, Kaido T, Takahashi A, Ohtsuki T, Sakuma H, Sasaki M
  • Journal Title: Brain Dev Volume: 35 Issue: 6 Pages: 531-539
  • DOI: 10.1016/j.braindev.2012.08.007
  • Peer Reviewed
• [Journal Article] Irahara K, Saito Y, Sugai K, Nakagawa E, Saito T, Komaki H, Nabatame S, Kaneko Y, Hotate M, Sasaki M. (2011)
  • Author(s): Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy
  • Journal Title: Epilepsy Research Volume: 96 Issue: 1-2 Pages: 185-189
  • DOI: 10.1016/j.eplepsyres.2011.05.007
  • Peer Reviewed
• [Presentation] LATE-ONSET EPILEPSY IN CHILDREN AFTER ACUTE FEBRILE ENCEPHALOPATHY WITH PROLONGED CONVULSIONS (2013)
  • Author(s): Saito T, Saito Y, Sugai K, Nakagawa E, Komaki H, Kaneko Y, Kaido T, Takahashi A, Otsuki T, Sakuma H, Sasaki M
  • Organizer: 30^<th> international epilepsy congress
  • Place of Presentation: the Palais des congres de Montreal, Montreal, Canada
• [Presentation] LATE-ONSET EPILEPSY IN CHILDREN AFTER ACUTE FEBRILE ENCEPHALOPATHY WITH PROLONGED CONVULSIONS (2013)
  • Author(s): Saito T, Saito Y, Sugai K, Nakagawa E, Komaki H, Kaneko Y, Kaido T, Takahashi A, Otsuki T, Sakuma H, Sasaki M
  • Organizer: 30st International Epilepsy Congress
  • Place of Presentation: Montreal, Canada
• [Presentation] 乳児期に不随意運動で発症したDRPLAの15歳女性例 (2012)
  • Author(s): 齋藤貴志、榎園崇、斎藤義朗、小牧宏文、中川栄二、須貝研司、佐々木征行、澁谷 誠、齊藤祐子
  • Organizer: 第53回日本神経病理学会
  • Place of Presentation: 朱鷺メッセ新潟コンベンションセンター