Genetic and Clinical Investigation of Japanese Females with PCDH19 Abnormality

2011 Fiscal Year Final Research Report

• Project/Area Number: 22791011
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Fukuoka University
• Principal Investigator: HIGURASHI Norimichi 福岡大学, 医学部, 助手 (40568820)
• Project Period (FY): 2010 – 2011
• Keywords: てんかん / 精神遅滞 / 女性 / 遺伝子

Research Abstract

We performed genetic analysis of PCDH19 in many Japanese females with epilepsies, and identified point mutations in 18 patients and 4 affected relatives and PCDH19 deletion in 2 patients. Their seizures started at 4.25 months of age. The central clinical feature was recurrent seizure clusters associated with fever. The duration of each seizure was brief. Seizures were tonic, tonic-clonic, and focal seizures often with generalization. Seizures often persisted until puberty and disappeared mainly during the teenage years. The patients often showed intellectual disability, and, in some, autistic features and hyperactive behavior.

Research Products

• [Journal Article] 女性に限定されるてんかんと精神遅滞-本邦患者の特徴とPCDH19遺伝子解析を考慮するポイント (2011)
  • Author(s): 日暮憲道、廣瀬伸一
  • Journal Title: 日本小児科学会雑誌 Volume: 115巻 Pages: 1513-1523
• [Journal Article] PCDH19 mutation in Japanese females with epilepsy (2011)
  • Author(s): Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S.
  • Journal Title: Epilepsy Res Volume: 99巻 Pages: 28-37
  • Peer Reviewed
• [Presentation] Clinical presentations in early phase of PCDH19-related epilepsy (2012)
  • Author(s): Higurashi N, Hirose S.
  • Organizer: 9^<th> Asian and Oceanian Epilepsy Congress
  • Place of Presentation: Manila
  • Year and Date: 20120300
• [Presentation] どのような時に"女性に限定されるてんかんと精神遅滞"を疑うか (2011)
  • Author(s): 日暮憲道、廣瀬伸一
  • Organizer: 小児科学会福岡地方会
  • Place of Presentation: 福岡
  • Year and Date: 20111000
• [Presentation] 本邦女性てんかん患者におけるMLPA法を用いたプロトカドヘリン19欠失の検索 (2011)
  • Author(s): 日暮憲道, 臼井大介, 高橋幸利, 廣瀬伸一
  • Organizer: 第45回日本てんかん学会
  • Place of Presentation: 新潟
  • Year and Date: 20111000
• [Presentation] Epilepsy and Mental Retardation Limited to Females-A Disease with Increasing Significance (2011)
  • Author(s): Higurashi N.
  • Organizer: The 1^<st> international symposium of Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University
  • Place of Presentation: 福岡
  • Year and Date: 20110700
• [Presentation] 本邦女児てんかん患者におけるPCDH19遺伝子解析の現況 (2011)
  • Author(s): 日暮憲道, 安元佐和, 廣瀬伸一
  • Organizer: 第53回日本小児神経学会総会
  • Place of Presentation: 横浜
  • Year and Date: 20110500
• [Presentation] PCDH19 mutations and their phenotype in Japanese females with suspected SCN1A-related epilepsy (2010)
  • Author(s): Higurashi N, Hamachi A, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Hirose S.
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
  • Year and Date: 20100500
• [Presentation] PCDH19 mutations and their phenotype in Japanese females with suspected SCN1A-related epilepsy (2010)
  • Author(s): Higurashi N, Hamachi A, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Hirose S.
  • Organizer: 11^<th> International Child Neurology Congress
  • Place of Presentation: Cairo
  • Year and Date: 20100500