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J-GLOBAL ID：201802249200894933   Reference number：18A0418277

Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia

限局性皮質異形成に関連する部分癲癇を呈した新規PTEN突然変異を伴うCowden症候群

Author (5)： Adachi Tadashi (Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan) ,  Takigawa Hiroshi (Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan) ,  Nomura Takashi (Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan) ,  Watanabe Yasuhiro (Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan) ,  Kowa Hisanori (Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 57  Issue： 1  Page： 97-99(J-STAGE)  Publication year： 2018 
JST Material Number： U0033A  ISSN： 1349-7235  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *Cowden syndrome

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Author keywords (4)： Cowden syndrome ,  cortical dysplasia ,  PTEN ,  epilepsy

JST classification (2)： Clinical oncology in general  (GE03010Y) ,  Congenital diseases,deformities in general.  (GD03010V)

Substance index (1)： Carbamazepine

Reference (13)：

• 1. Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet 16: 1289-1300, 2008.
• 2. Lok C, Viseux V, Avril MF, et al. Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine (Baltimore) 84: 129-136, 2005.
• 3. Lloyd KM 2nd, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med 58: 136-142, 1963.
• 4. Farooq A, Walker LJ, Bowling J, Audisio RA. Cowden syndrome. Cancer Treat Rev 36: 577-583, 2010.
• 5. Nelen MR, Padberg GW, Peeters EA, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13: 114-116, 1996.

Terms in the title (5)： 限局性皮質異形成 ,  部分癲癇 ,  PTEN ,  突然変異 ,  Cowden症候群