High resolution chromosomal microarray in febrile seizures.

• Project/Area Number: 21591331
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Ibaraki Prefectural University of Health Science
• Principal Investigator: NAKAYAMA Junko 茨城県立医療大学, 付属病院, 准教授 (30433155)
• Co-Investigator(Kenkyū-buntansha): ARINAMI Tadao 筑波大学, 人間総合科学研究科, 教授 (10212648) ; 岩崎 信明 茨城県立医療大学, 保健医療学部, 教授 (70251006)
• Project Period (FY): 2009 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000); Fiscal Year 2012: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000); Fiscal Year 2011: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000); Fiscal Year 2010: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000); Fiscal Year 2009: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
• Keywords: けいれん性疾患 / 熱性けいれん / 遺伝子 / オリゴヌクレオチドアレイ / CNV / ォリゴヌクレオチドアレイ

Research Abstract

To perform an extensive search for genomic rearrangements, molecular karyotyping was carried out with high-resolution oligonucleotide array technologies in 40 patients with familial febrile seizures. It showed 151 copy number alterations, 134 deleted regions and 17 duplicated regions. Although most of them are registered copy number variants (CNVs), three unregistered deleted regions and four unregistered duplicated regions contains several genes. Of these, two unregistered duplicated regions, 8p13.3 and 5q14, have been reported as the febrile seizure loci (FEB1and FEB4). Further investigation is required to determine whether these duplicated regions are related to the febrile seizures.

Research Products

• [Journal Article] Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia (2012)
  • Author(s): Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptacek LJ
  • Journal Title: J Clin Invest Volume: 122 Pages: 507-518
  • Peer Reviewed
• [Journal Article] Abnormal brin MRI signal in 18q-syndrome not due to dysmyelination (2012)
  • Author(s): Tanaka R, Iwasaki N, Hayashi M, Nakayama J, Ohto T, Takahashi M, Numano T, Homma K, Hamano K, Sumazaki R
  • Journal Title: Brain Dev Volume: 34 Pages: 234-237
  • Peer Reviewed
• [Journal Article] Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination (2012)
  • Author(s): Tanaka R et al.
  • Journal Title: Brain Dev Volume: 34 Issue: 3 Pages: 234-237
  • DOI: 10.1016/j.braindev.2011.05.008
  • Peer Reviewed
• [Journal Article] 熱性けいれんと遺伝子異常 (2011)
  • Author(s): 中山純子、岩崎信明
  • Journal Title: 小児科診療 Volume: 74 Pages: 879-883
• [Journal Article] Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and apathological insight into pilosebaceous anomaly (2011)
  • Author(s): Kamo M, Ohyama M, Kosaki K, Amagai M, Ebihara T, Nakayama J, Ishiko A
  • Journal Title: Am J Dermatopathol Volume: 33 Pages: 403-406
  • Peer Reviewed
• [Journal Article] Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation (2011)
  • Author(s): Nakayama J, Iwasaki N, Shin K, Sato H, Kamo M, Ohyama M, Noguchi E, Arinami T. A
  • Journal Title: J Hum Genet Volume: 56 Pages: 250-252
  • NAID: 10030658580
  • Peer Reviewed
• [Journal Article] Ichthyosis, follicularis, alopecia, and photophobia syndrome : a case report and a pathological insightinto pilosebaceousanomaly (2011)
  • Author(s): Kamo M, et al
  • Journal Title: Am J Dermatopathol Volume: 33 Pages: 403-406
  • Peer Reviewed
• [Journal Article] A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation (2011)
  • Author(s): Nakayama J, et al
  • Journal Title: J Hum Genet Volume: 56 Pages: 250-252
  • NAID: 10030658580
  • Peer Reviewed
• [Journal Article] Progress in searching for the febrile seizure susceptibility genes (2009)
  • Author(s): Nakayama J
  • Journal Title: Brain & Dev Volume: 31 Pages: 359-365
  • NAID: 10025579752
  • Peer Reviewed
• [Journal Article] Progress in searching for the febrile seizure susceptibility genes. (2009)
  • Author(s): Nakayama J
  • Journal Title: Brain & Development 31 Pages: 359-365
  • NAID: 10025579752
  • Peer Reviewed
• [Presentation] Seizures in IFAP syndrome: a case report and review of the literature (2012)
  • Author(s): 中山純子
  • Organizer: 第14回乳幼児けいれん研究会
  • Place of Presentation: 東京
  • Year and Date: 2012-02-18
• [Presentation] Seizures in IFAP syndrome : a case report and review of the literature (2012)
  • Author(s): 中山純子
  • Organizer: 第14回乳幼児けいれん研究会
  • Place of Presentation: 東京大学
  • Year and Date: 2012-02-18
• [Presentation] Characteristic brain hypoperfusion by single photon emission computed tomography in children with diphenylarsenic acid intoxication (2012)
  • Author(s): Iwasaki N et al.
  • Organizer: 12th International Child Neurology Congress and 11th Asian and Oceanian Congress of Child Neurology
  • Place of Presentation: Brisbane, Australia
• [Presentation] 小児けいれん性疾患の遺伝学的背景-熱性けいれんを中心に- (2010)
  • Author(s): 中山純子
  • Organizer: 日本小児科学会茨城地方会
  • Place of Presentation: つくば(茨城)
  • Year and Date: 2010-02-21
• [Presentation] 小児けいれん性疾患の遺伝学的背景-熱性けいれんを中心に- (2010)
  • Author(s): 中山純子
  • Organizer: 日本小児科学会茨城地方会
  • Place of Presentation: つくば国際会議場(茨城県)
  • Year and Date: 2010-02-21