研究室のご紹介

臨床研究

  • 京都における小児てんかんのコホート研究
  • 脊髄性筋萎縮症の複合筋活動電位（CMAP）振幅を用いた長期的な治療効果の検討
  • 京都府における拡大新生児スクリーニングの有用性の検討
  • 新規抗てんかん薬の有効性及び安全性の検討

基礎研究

  • 発達性てんかん性脳症の分子病態解析
  • 遺伝性神経疾患のiPS細胞を用いた病態解析および新規治療の開発
  • ショウジョウバエを用いた小児神経疾患の新規治療探索
  • 脊髄性筋萎縮症の神経筋接合部異常の分子病態及び新規治療の探索

研究メンバー

看護学科医学講座小児科学 教授 森本昌史
遺伝子診療部　病院准教授 千代延友裕
小児科学　学内講師 戸澤雄紀
小児科学　助教 一瀬栄佑
大学院生 宮本洋輔
大学院生 高田礼
大学院生 松浦周

関係学会

  • 日本小児神経学会
  • 日本てんかん学会
  • 日本人類遺伝学会

学会認定施設

  • 小児神経専門医制度認定研修施設
  • てんかん専門医制度認定研修施設
  • 臨床遺伝専門医制度認定研修施設

業績

  1. Matsuoka T, Yoshida H, Kasai T, Tozawa T, Iehara T, Chiyonobu T. α-synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: connecting STXBP1 encephalopathy with α-synucleinopathies. Hum Mol Genet. 2024; 33:1328-38.

  2. Taura Y, Tozawa T, Fujimoto T, Ichise E, Chiyonobu T, Itho K, Iehara T. Myosin Va, a novel interaction partner of STXBP1, is required to transport Syntaxin1A to the plasma membrane. Neuroscience. 2023; 524:256-68.

  3. Ichise E, Chiyonobu T, Ishikawa M, Tanaka Y, Shibata M, Tozawa T, Taura Y, Yamashita S, Yoshida M, Morimoto M, Higurashi N, Yamamoto T, Okano H, Hirose S. Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons. Hum Mol Genet. 2021; 30: 1337-48.

  4. Sakaue S, Hasegawa T, Sakai K, Zen Y, Tozawa T, Chiyonobu T, Yamada K, Morimoto M, Hosoi H. Low-grade IVH in preterm infants causes cerebellar damage, motor, and cognitive impairment. Pediatr Int. 2021; 63(11): 1327-33.

  5. Takai A, Chiyonobu T, Ueoka I, Tanaka R, Tozawa T, Yoshida H, Morimoto M, Hosoi H, Yamaguchi M. A novel Drosophila model for neurodevelopmental disorders associated with Shwachman-Diamond syndrome. Neurosci Lett. 2020; 739: 135449.

  6. Zen Y, Chiyonobu T, Yuge M, Yokota I, Morimoto M, Teramukai S, Hosoi H. Gender differences in occurrence of behavioral and emotional problems at the lower grades of elementary school: Association with developmental and behavioral characteristics at 5 years. Brain Dev. 2019; 41: 760-8.

  7. Hasegawa T, Yamada K, Tozawa T, Chiyonobu T, Tokuda S, Nishimura A, Hosoi H, Morimoto M. Cerebellar peduncle injury predicts motor impairments in preterm infants: A quantitative tractography study at term-equivalent age. Brain Dev. 2018; 40: 743-52.

  8. Yoshida M, Nakashima M, Okanishi T, Kanai S, Fujimoto A, Itomi K, Morimoto M, Saitsu H, Kato M, Matsumoto N, Chiyonobu T. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. Clin Genet 2018; 93: 368-73.

  9. Zuiki M, Chiyonobu T, Yoshida M, Maeda H, Yamashita S, Kidowaki S, Hasegawa T, Gotoh H, Nomura T, Ono K, Hosoi H, Morimoto M. Luteolin attenuates interleukin-6-mediated astrogliosis in human iPSC-derived neural aggregates: A candidate preventive substance for maternal immune activation-induced abnormalities. Neurosci Lett. 2017; 653: 296-301.

  10. Kidowaki S, Morimoto M, Yamada K, Sakai K, Zuiki M, Maeda H, Yamashita S, Morita T, Hasegawa T, Chiyonobu T, Tokuda S, Hosoi H. Longitudinal change in white matter in preterm infants without magnetic resonance imaging abnormalities: Assessment of serial diffusion tensor imaging and their relationship to neurodevelopmental outcomes. Brain Dev. 2017; 39: 40-7.

  11. Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia. 2016; 57: e81-6.

  12. Maeda H, Chiyonobu T, Yoshida M, Yamashita S, Zuiki M, Kidowaki S, Isoda K, Yamakawa K, Morimoto M, Nakahata T, Saito MK, Hosoi H. Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. J Hum Genet. 2016; 61(6):565-9.

  13. Morita T, Morimoto M, Yamada K, Hasegawa T, Morioka S, Kidowaki S, Moroto M, Yamashita S, Maeda H, Chiyonobu T, Tokuda S, Hosoi H. Low-grade intraventricular hemorrhage disrupts cerebellar white matter in preterm infants: evidence from diffusion tensor imaging. Neuroradiology. 2015; 57: 507-14.

  14. Moroto M, Nishimura A, Morimoto M, Isoda K, Morita T, Yoshida M, Morioka S, Tozawa T, Hasegawa T, Chiyonobu T, Yoshimoto K, Hosoi H. Altered somatosensory barrel cortex refinement in the developing brain of Mecp2-null mice. Brain Res. 2013; 1537: 319-26.

  15. Morioka S, Morimoto M, Yamada K, Hasegawa T, Morita T, Moroto M, Isoda K, Chiyonobu T, Imamura T, Nishimura A, Morimoto A, Hosoi H. Effects of chemotherapy on the brain in childhood: diffusion tensor imaging of subtle white matter damage. Neuroradiology. 2013; 55: 1251-7.

  16. Tozawa T, Itoh K, Yaoi T, Tando S, Umekage M, Dai H, Hosoi H, Fushiki S. The shortest isoform of dystrophin (Dp40) interacts with a group of presynaptic proteins to form a presumptive novel complex in the mouse brain. Mol Neurobiol. 2012; 45: 287-97.

  17. Hasegawa T, Yamada K, Morimoto M, Morioka S, Tozawa T, Isoda K, Murakami A, Chiyonobu T, Tokuda S, Nishimura A, Nishimura T, Hosoi H. Development of corpus callosum in preterm infants is affected by the prematurity: in vivo assessment of diffusion tensor imaging at term-equivalent age. Pediatr Res. 2011; 69: 249-54.