■ Published papers
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Original article
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1.
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SUZUKI Yasuyo, UEHARA Daniela Tiaki, ENOKIDO Yasushi, KAWAI Taeko, NOMURA Noriko, YAMADA Kenichiro, TAKANASHI Jun-ichi, MIYAHARA Hiroaki, INAZAWA Johji, HAYASHI Shin：
Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.
Molecular neurobiology
63
(324)
：1-13
, 2025.11
DOI:10.1007/s12035-025-05559-0
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2.
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OGURI Masayoshi, OKANISHI Tohru*, KUKI Ichiro, HAMANO Shin-Ichiro, UETA Ikuya, NAKAMURA Yuko, INABA Yuji, LEE Sooyoung, TAKANASHI Jun-ichi, TOGAWA Masami, ONISHI Akinari, MAEGAKI Yoshihiro：
Automated differentiation of acute encephalopathy with biphasic seizures and late reduced diffusion and prolonged febrile seizures in acute phase.
Scientific Reports
15
(1)
：32948
, 2025.9
DOI:10.1038/s41598-025-17828-y
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3.
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HAMANAKA Kohei†, FUJITA Atsushi†, MIYATAKE Satoko†, MISAWA Kazuharu, KOSHIMIZU Eriko, UCHIYAMA Yuri, TSUCHIDA Naomi, SEYAMA Rie, SAKAMOTO Masamune, IWAMA Kazuhiro, NISHIMURA Naoto, UTSUNO Yasuhiro, FU Li, TAKIZAWA Marina, LIANG Qiaowei, ITAI Toshiyuki, SAIDA Ken, OHORI Sachiko, KAMEYAMA Shinichi, FUKUDA Hiromi, HAYASHI Yukina, INOUE Yuta, GOTO Tomohide, ICHIKAWA Kazushi, KUKI Ichiro, FUKUOKA Masataka, KIM Kiyohiro, SHIOHAMA Tadashi, SHIMODA Konomi, OTSUKA Kosuke, UEDA Yuki, CHO Kazutoshi, YUGE Kotaro, TACHI Nobutada, YOSHIDA Masaki, DAIDA Atsuro, HIRASAWA Kyoko, YANAGISHITA Tomoe, YAMAMOTO Toshiyuki, SHIRAI Kentaro, MEHR Fixler Tammar, VALEVSKI Aviva Fattal, LEV Dorit, YOKOYAMA Haruna, IWABUCHI Emi, SAITO Yoshihiko, MIURA Masaki, SUGAI Kenji, ISHIYAMA Akihiko, WATANABE Yoshihiro, TAKANASHI Jun-Ichi, KIM Chong Ae, YOKOCHI Kenji, TOHYAMA Jun, IZUMI Yuishin, HASEGAWA Yuiko, OKAMOTO Nobuhiko, IKEDA Takahiro, OSAKA Hitoshi, KAWAI Yosuke, OMAE Yosuke, MIZUGUCHI Takeshi†, MATSUMOTO Naomichi＊：
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
NPJ genomic medicine.
60
：1-12
, 2025.8
DOI:10.1038/s41525-025-00521-4
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4.
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OMATA Taku†*, SAKUMA Hiroshi, NAGASE Hiroaki, ABE Yuichi, KUKI Ichiro, OKUMURA Akihisa, MAEGAKI Yoshihiro, MURAYAMA Kei, SAKAI Yasunari, HOSHINO Ai, MIZUGUCHI Masashi, TAKANASHI Jun-ichi：
National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study.
Brain & development
47
(4)
：104387
, 2025.8
DOI:10.1016/j.braindev.2025.104387
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5.
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Kohta Nakamura†, Yoshihito Kishita, Atsuko Imai-Okazaki, Taku Omata, Maki Nodera, Yukiko Yatsuka, Ayumu Sugiura, Naoyuki Matsumoto, Holger Prokisch, Hiroshi Matsumoto, Akira Ohtake, Kei Murayama, Yasushi Okazaki*：
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction.
Journal of human genetics
70
(10)
：541-543
, 2025.7
DOI:10.1038/s10038-025-01356-8
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Review article
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1.
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KASAI Mariko, SAKUMA Hiroshi, SUZUKI Motomasa, NISHIYAMA Masahiro, KAWATA Nanako, LIN Jainn-jim, LIN Kuang-lin, HAN Velda, MOHAMMAD Shekeeb, DALE Russell, THOMAS Terrence, MURAMATSU Kazuhiro, MITANI Osamu, KOBAYASHI Yoshiyuki, ISHIDA Kouhei, ABE Yuichi, KUKI Ichiro, TAKANASHI Jun-ichi：
Life-Threatening SARS-CoV-2-Associated Encephalopathy and Multiorgan Failure in Children, Asia and Oceania, 2022-2024.
Emerging infectious diseases
32
(2)
：169-179
, 2026.2
DOI:10.3201/eid3202.250549
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2.
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髙梨潤一：
小児医療；COVID-19関連急性脳症.
東京女子医科大学雑誌
95(4)
：103-108
, 2025.8
DOI:10.24488/jtwmu.95.4_103
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3.
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Takanashi Jun-ichi：
Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy.
Brain & Development
47
：104345
, 2025.4
DOI:10.1016/j.braindev.2025.104345
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Case report
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1.
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ISHIGURO Kumiko, KISHI Takayuki, SANO Kentarou, SHICHIJI Minobu, SATOU Takatoshi, ISHIGAKI Keiko†, NAGATA Satoru：
New onset of juvenile dermatomyositis after COVID-19 infection in two patients: a case report.
Brain and Development Case Reports
4
(1)
：100123
, 2026.3
DOI:https://doi.org/10.1016/j.bdcasr.2025.100123
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2.
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ASAHARA Ryoko, ENOKIZONO Mikako, OGAWA Eri, KAWAKAMI Aki, TAKANASHI Jun-ichi, KONO Tatsuo：
Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report.
Brain & Development
48
(2)
：104516
, 2026.2
DOI:10.1016/j.braindev.2026.104516
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3.
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Tada H, Ichimoto K, Murayama K, Goto T, Takanashi J：
New neuroimaging findings in enoyl-CoA hydrotase short-chain 1 (ECHS1) deficiency.
CUREUS
18
(1)
：e102392.
, 2026.1
DOI:10.7759/cureus.102392
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4.
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OCHIAI Kenta*, OMATA Taku, TAKANASHI Jun-ichi：
Pre-exercise indomethacin farnesil for primary exercise headache in an adolescent: A case report.
Brain and Development Case Reports
4
：100128
, 2026.1
DOI:10.1016/j.bdcasr.2026.100128
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5.
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OCHIAI Kenta, OMATA Taku, SANO Kentaro, MUTOH Tatsuro, TAKANASHI Jun-ichi：
Pediatric Encephalomyeloradiculoneuropathy With High Lactate in Cerebrospinal Fluid and Magnetic Resonance Spectroscopy: A Case Report.
Journal of child neurology
：10.1177/08830738251400135
, 2025.11
DOI:10.1177/08830738251400135
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6.
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SANO Kentaro†, OMATA Taku*, SASAKI Yusuke, OCHIAI Kenta, SHIOTA Megumi, HIROSE Shoko, SHIRATO Yuri, MAURA Naoko, KIGAWA Takashi, HASE Ryota, NAGASE Hisashi, TAKAMOTO Masaya, NOROSE Kazumi, TAKANASHI Jun-ichi：
Successful treatment of infantile epileptic spasms syndrome caused by congenital toxoplasmosis with adrenocorticotropic hormone therapy: A case report.
Brain & Development
3
(3)
：100085
, 2025.9
DOI:10.1016/j.bdcasr.2025.100085
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7.
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SUGIYAMA Ryo, SHIMIZU-MOTOHASHI Yuko, SAKATA Yuka, OMATA Taku, TAKANASHI Jun-ichi, FURUKAWA Shogo, NAKASHIMA Mitsuko, SAITSU Hirotomo, SATO Noriko：
Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants.
Brain & Development
47
(5)
：104442
, 2025.9
DOI:10.1016/j.braindev.2025.104442
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Other
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1.
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佐野賢太郎†, 安河内（高橋）悠, 佐藤郁夫, 田邉良, 永沢佳純, 石井光子：
学校での障害児受け入れの課題：障害に関する千葉県教職員研修会参加者へのアンケート.
日本小児科学会雑誌
130
(1)
：55-64
, 2026.1
DOI:https://doi.org/10.82602/jpeds.25-0007
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2.
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OMATA Taku*, TAKANASHI Jun-ichi：
Response to the letter to the editor titled “diagnostic clarification and exclusion of differential diagnoses in pediatric acute encephalopathy” regarding: “National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study”.
Brain & Development
47
(5)
：104432
, 2025.10
DOI:10.1016/j.braindev.2025.104432
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■ Academic conference presentation
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1.
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◎Omata T, Takanashi J：
Preliminary study of mitochondrial cocktail therapy and magnetic resonance spectroscopy in pediatric acute encephalopathy with excitotoxicity.
The 16th European Paediatric Neurology Society (EPNS) Congress,
Munich, Germany,
2025/07
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2.
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◎髙梨潤一：
小児急性脳症.
令和7年度日本医学放射線学会関東地方会セミナー,
オンデマンド,
2026/03
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3.
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◎髙梨潤一：
神経画像で診る小児脳の疾患・病態.
第233回日本小児科学会千葉地方会学術集会,
千葉大学,
2026/02
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4.
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◎髙梨潤一：
小児有熱時発作の診療；熱性けいれん（発作）と小児急性脳症.
第214回 大阪小児科医会学術集会,
大阪国際ビル,
2026/02
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5.
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◎髙梨潤一：
MRSが診断の肝となる小児神経疾患.
令和7年度 第2回厚労科研 村松班・AMED 井上班合同班会議,
東京都,
2025/12
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6.
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◎小俣卓, 髙梨潤一：
興奮毒性におけるビタミン（ミトコンドリアカクテル）療法の有効性を示唆するmagnetic resonance spectroscopy（MRS）所見.
令和7年度 厚労科研 高梨班・AMED 佐久間班 合同班会議,
WEB開催,
2025/11
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7.
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◎髙梨潤一：
小児急性脳症疫学情報とけいれん重積型（二相性）急性脳症（AESD）.
第29回日本神経感染症学会総会・学術大会,
長野県,
2025/10
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8.
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◎寺西宏美, 水本崚允, 平井純, 大滝里美, 颯佐かおり, 松本浩, 髙梨潤一, 山内秀雄：
けいれん重積で搬送されたAlexander病が疑われる1例.
第83回日本小児神経学会関東地方会,
東京都,
2025/10
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9.
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◎佐野賢太郎, 落合健太, 白戸由理, 小俣卓, 山口宏, 永瀬裕朗, 髙梨潤一：
脳症発症時に淡蒼球・黒質病変を呈したWDR45関連神経変性症の1例.
第61回日本小児放射線学会学術集会,
東京,
2025/06
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10.
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◎小俣卓：
第3回小児急性脳症に関する全国疫学調査（2020年4月～2023年10月）の報告.
第67回日本小児神経学会学術集会,
鳥取県,
2025/06
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11.
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◎佐野賢太郎, 小俣卓, 須藤真奈実, 髙瀨菜々子, 安河内（高橋）悠, 塩田惠, 白戸由理, 髙梨潤一：
カルバマゼピンによる聴覚異常を呈した運動誘発性ジスキネジアに対するラコサミドの有効性.
第36回千葉県小児神経懇話会,
千葉県千葉リハビリテーションセンター,
2025/12
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12.
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◎髙梨潤一：
小児脳MRIの勘所：画像所見から病態を診る.
第55回小児神経学セミナー,
千葉県,
2025/11
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