Personnel Information

写真a

MIZUNO Tomoko


Job title

Junior Associate Professor
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Campus Career 【 display / non-display 】

  • 2017.04
    -
    Now
    Institute of Science Tokyo， (Old Organization)Medical Hospital， Hospital Departments， Department of Pediatrics, Maternal and Woman's Medicine， Pediatrics， Assistant Professor
  • 2017.04
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    Now
    Institute of Science Tokyo， Graduate School of Medical and Dental Sciences， Medical and Dental Sciences， Bio-Environmental Response， Pediatrics and Developmental Biology， Assistant Professor
  • 2018.04
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    Now
    Institute of Science Tokyo， Graduate School of Medical and Dental Sciences， Medical and Dental Sciences， Division of Bio-Environmental Response， Department of Pediatrics and Developmental Biology， Assistant Professor
  • 2021.04
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    2024.09
    Tokyo Medical and Dental University， Graduate School of Medical and Dental Sciences， Medical and Dental Sciences， Division of Public Health， Department of Global Health Promotion， Graduate Student
  • 2024.10
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    2025.07
    Institute of Science Tokyo， -， Graduate Schools， Public Health， Department of Global Health Promotion， Graduate Student
  • 2025.08
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    Now
    Institute of Science Tokyo， -， Institute of Science Tokyo Hospital， Department of Pediatrics, Perinatal, and Women's Medicine， Pediatrics， Junior Associate Professor

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Qualification Acquired 【 display / non-display 】

  • Doctor

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Published Papers & Misc 【 display / non-display 】

  1. Yui Innami, Yuki Mizuno, Kentaro Yamada, Kei Takasawa, Yoshifumi Ito, Kentaro Okamoto, Jun Hashimoto, Ryutaro Ohira, Konomi Shimoda, Tomoko Mizuno, Takahiro Kamiya, Toshitaka Yoshii, Masatoshi Takagi, Tomoyuki Aruga. Detorsion of Wandering Spleen Causes Significant Hypersplenism Resulting in Thrombocytopenia and Spinal Cord Injury: A Case Report. Surg Case Rep. 2025.08; 11 (1): 25-0111. ( PubMed, DOI )

  2. Shumpei Morita, Taisuke Yamauchi, Yumie Tamura, Tomonori Suzuki, Toshihiro Nomura, Hiroshi Shiraku, Koji Takahashi, Kei Takasawa, Kenichi Kashimada, Tomoko Mizuno. Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome. Brain Dev. 2025.08; 47 (4): 104376. ( PubMed, DOI )

  3. Ryuta Orimoto, Eriko Adachi, Maki Gau, Yoko Saito, Haruki Yamano, Hisae Nakatani, Shizuka Kirino, Kengo Moriyama, Yohei Yamaguchi, Tomoko Mizuno, Taku Ishii, Masayuki Yoshida, Kenichi Kashimada, Kei Takasawa. Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review. J Hum Genet. 2025.06; 70 (6): 321-324. ( PubMed, DOI )

  4. Ayako Kashimada, Tomoko Mizuno, Eriko Tanaka, Susumu Hosokawa, Tomohiro Udagawa, Yuichi Hiraoka, Keisuke Uchida, Tomohiro Morio, Kenjiro Kosaki, Masatoshi Takagi. De novo variant in RING finger protein 213 causes systemic vasculopathy. JCI Insight. 2025.06; 10 (11): ( PubMed, DOI )

  5. Orimoto Ryuta, Adachi Eriko, Gau Maki, Saito Yoko, Yamano Haruki, Nakatani Hisae, Kirino Shizuka, Moriyama Kengo, Yamaguchi Yohei, Mizuno Tomoko, Ishii Taku, Yoshida Masayuki, Kashimada Kenichi, Takasawa Kei. Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review(タイトル和訳中) Journal of Human Genetics. 2025.06; 70 (6): 321-324. ( ichushi )

  6. Tomoko Mizuno, Nobutoshi Nawa, Aya Isumi, Satomi Doi, Tomohiro Morio, Takeo Fujiwara. Association between COVID-19 pandemic and school refusal among elementary school children in Japan: difference-in-differences analysis. Front Public Health. 2025; 13 1466209. ( PubMed, DOI )

  7. Mizuno T, Kanouchi T, Tamura Y, Hirata K, Emoto R, Suzuki T, Kashimada K, Morio T. Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports. BMC neurology. 2023.10; 23 (1): 392. ( PubMed, DOI )

  8. Moriyama K, Mizuno T, Suzuki T, Inaji M, Maehara T, Fujita A, Kato M, Matsumoto N. ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report. Brain & development. 2023.01; 45 (1): 77-81. ( PubMed, DOI )

  9. Moriyama Kengo, Mizuno Tomoko, Suzuki Tomonori, Inaji Motoki, Maehara Taketoshi, Fujita Atsushi, Kato Mitsuhiro, Matsumoto Naomichi. 脳梁離断術が奏効したATP1A3遺伝子関連の幼児期発症発達性およびてんかん性脳症　1症例報告(ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report) Brain & Development. 2023.01; 45 (1): 77-81. ( ichushi )

  10. Haitian Nan, Tomoko Mizuno, Atsuko Arisaka, Kenshi Sei, Yoshihisa Takiyama. A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum. Neurol Sci. 2022.03; 43 (3): 2123-2126. ( PubMed, DOI )

  11. Haitian Nan, Hiroshi Shiraku, Tomoko Mizuno, Yoshihisa Takiyama. A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature. BMC Neurol. 2021.11; 21 (1): 439. ( PubMed, DOI )

  12. Tomohiro Tago, Tomonori Suzuki, Ayako Kashimada, Masatoshi Takagi, Tomoko Mizuno. Two case reports of KBG syndrome with Dandy-Walker variant. Pediatr Int. 2021.08; ( PubMed, DOI )

  13. Mizuno T, Miyata R, Hojo A, Tamura Y, Nakashima M, Mizuguchi T, Matsumoto N, Kato M. Clinical variations of epileptic syndrome associated with PACS2 variant. Brain & development. 2021.02; 43 (2): 343-347. ( PubMed, DOI )

  14. Sugawara Y, Mizuno T, Moriyama K, Ishiwata H, Kato M, Nakashima M, Mizuguchi T, Matsumoto N. Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a <i>de novo CDK19</i> variant. Neurology. Genetics. 2020.12; 6 (6): e527. ( PubMed, DOI )

  15. Hasegawa S, Kumada S, Tanuma N, Tsuji-Hosokawa A, Kashimada A, Mizuno T, Moriyama K, Sugawara Y, Shirai I, Miyata Y, Nishida H, Mashimo H, Hasegawa T, Hosokawa T, Hisakawa H, Uematsu M, Fujine A, Miyata R, Sakuma H, Kashimada K, Imai K, Morio T, Hayashi M, Mizutani S, Takagi M. . Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia. Pediatr Neurol. 2019.11; 100 60-66. ( PubMed, DOI )

  16. Tomoko Mizuno, Ayako Kashimada, Toshihiro Nomura, Kengo Moriyama, Haruna Yokoyama, Setsuko Hasegawa, Masatoshi Takagi, Shuki Mizutani. Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. Brain Dev.. 2019.08; 41 (7): 630-633. ( PubMed, DOI )

  17. Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi. Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Brain Dev. 2019.02; 41 (2): 150-157. ( PubMed, DOI )

  18. Nagatsuma M, Takasawa K, Yamauchi T, Nakagawa R, Mizuno T, Tanaka E, Yamamoto K, Uemura N, Kashimada K, Morio T. A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. Journal of human genetics. 2019.02; 64 (2): 177-181. ( PubMed, DOI )

  19. Tomoko Mizuno, Satoko Kumada, Rie Naito. Sleep-Related Laryngeal Stridor in Opsoclonus Myoclonus Syndrome. Pediatr. Neurol.. 2017.12; 77 91. ( PubMed, DOI )

  20. Tomoko Mizuno, Hirofumi Komaki, Masayuki Sasaki, Satoko Takanoha, Kenji Kuroda, Kiyokaku Kon, Shigeo Mamiya, Masaru Yoshioka, Kana Yatabe, Takashi Mikata, Tadayuki Ishihara, Takashi Nakajima, Hiroo Watanabe, Masaaki Konagaya, Maki Mitani, Tetsuro Konishi, Yasuko Tokita, Kiyotaka Fukuda, Katsunori Tatara, Kyoko Maruta, Shigehiro Imamura, Rie Shimazaki, Kiyoshi Ishikawa, Toshio Saito, Susumu Shinno. Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients. Brain Dev.. 2012.10; 34 (9): 756-762. ( PubMed, DOI )

  21. Tomoko Mizuno, Masayuki Sasaki, Hirofumi Komaki, Hiroshi Sakuma, Yoshiaki Saito, Eiji Nakagawa, Kenji Sugai, Yuko Saito, Ikuya Nonaka, Yukio Sawaishi. A case of congenital axonal neuropathy associated with West syndrome. Brain Dev.. 2011.09; 33 (8): 692-696. ( PubMed, DOI )

  22. Tomoko Mizuno, Eiji Nakagawa, Hiroshi Sakuma, Yoshiaki Saito, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Akio Takahashi, Taisuke Otsuki, Kotoe Sakihara, Masumi Inagaki. Multiple band frequency analysis in a child of medial temporal lobe ganglioglioma. Childs Nerv Syst. 2011.03; 27 (3): 479-483. ( PubMed, DOI )

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Conference Activities & Talks 【 display / non-display 】

  1. 水野朋子, 渡邉浩太郎, 山内泰輔, 森山剣光, 高木正稔. 当院における小児神経疾患に対する分子標的薬の使用状況. 第67回日本小児神経学会学術集会 2025.06.06 鳥取

  2. Yuji Sugawara, Takeshi Hasegawa, Toshihiro Nomura, Kengo Moriyama, Tomoko Mizuno, Daisuke Kobayashi, Motoki Inaji, Taketoshi Maehara. Temporo-polar gray/white matter blurring prior to febrile seizure status in temporal lobe epilepsy. 19th annual Meeting of Infantile Seizure Soceity (ISSET International Symposium on Severe Infantile Epilepsy Treatment) 2018.09.22 Roma, Italy

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