High resolution chromosomal microarray in febrile seizures.

2012 Fiscal Year Final Research Report

• 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)
• Project Period (FY): 2009 – 2012
• 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

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] 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
  • 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
  • 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] 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