東京大学医学部附属病院 小児科
小児神経チーム業績
Last Updated @ 2022.4.22＜原著論文＞
1.

Sato A, Ikeda K. Genetic and Environmental Contributions to Autism Spectrum Disorder ThroughMechanistic Target of Rapamycin. Biological Psychiatry Global Open Science. 2022 Apr;2(2):95105. DOI: 10.1016/j.bpsgos.2021.08.005

2.

Morisaki-Nakamura M, Suzuki S, Kobayashi A, Kita S, Sato I, Iwasaki M, Hirata Y, Sato A, Oka A,
Kamibeppu K. Efficacy of a Transitional Support Program Among Adolescent Patients With
Childhood-Onset Chronic Diseases: A Randomized Controlled Trial. Front Pediatr. 2022 Mar
31;10:829602. DOI: 10.3389/fped.2022.829602

3.

Kawakami S, Kubota M, Terashima H, Nagata C, Ishiguro A. Differentiating early clinical featuresof Panayiotopoulos syndrome from acute encephalopathy. Brain Dev. 2022 Feb 10:S03877604(22)00019-5. DOI: 10.1016/j.braindev.2022.01.006

4.

Sato A, Kotajima-Murakami H, Tanaka M, Katoh Y, Ikeda K. Influence of Prenatal Drug Exposure,
Maternal Inflammation, and Parental Aging on the Development of Autism Spectrum Disorder.
Front Psychiatry. 2022 Feb 9;13:821455. DOI: 10.3389/fpsyt.2022.821455

5.

Kotajima-Murakami H, Hagihara H, Sato A, Hagino Y, Tanaka M, Katoh Y, Nishito Y, Takamatsu
Y, Uchino S, Miyakawa T, Ikeda K. Exposure to GABAA Receptor Antagonist Picrotoxin in
Pregnant Mice Causes Autism-Like Behaviors and Aberrant Gene Expression in Offspring. Front
Psychiatry. 2022 Feb 3;13:821354. DOI: 10.3389/fpsyt.2022.821354

6.

Mori T, Sato A, Oka A, Higuchi O, Mizuguchi M. Anti-lipoprotein receptor-related protein 4antibody titer correlates with the clinical course of myasthenia gravis. Pediatr Int. 2022
Jan;64(1):e14916. DOI: 10.1111/ped.14916

7.

Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F,Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T,
Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura
Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake
Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M,
Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A,
Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita
A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A,
Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Prenatal clinicalmanifestations in individuals with COL4A1/2 variants. J Med Genet. 2021 Aug;58(8):505-513. DOI:

10.1136/jmedgenet-2020-106896
8.

Mizuguchi M, Ohsawa M, Kashii H, Sato A. Brain Symptoms of Tuberous Sclerosis Complex:
Pathogenesis and Treatment. Int J Mol Sci. 2021 Jun 22;22(13):6677. DOI: 10.3390/ijms22136677

9.

Abe-Hatano C, Iida A, Kosugi S, Momozawa Y, Terao C, Ishikawa K, Okubo M, Hachiya Y,
Nishida H, Nakamura K, Miyata R, Murakami C, Takahashi K, Hoshino K, Sakamoto H, Ohta S,
Kubota M, Takeshita E, Ishiyama A, Nakagawa E, Sasaki M, Kato M, Matsumoto N, Kamatani Y,
Kubo M, Takahashi Y, Natsume J, Inoue K, Goto YI. Whole genome sequencing of 45 Japanesepatients with intellectual disability. Am J Med Genet A. 2021 May;185(5):1468-1480. DOI:
10.1002/ajmg.a.62138

10. Nishida H, Kohyama K, Kumada S, Takanashi JI, Okumura A, Horino A, Moriyama K, Sakuma H.
Evaluation of the Diagnostic Criteria for Anti-NMDA Receptor Encephalitis in Japanese Children.
Neurology. 2021 Apr 20;96(16):e2070-e2077. DOI: 10.1212/WNL.0000000000011789
11. Morisaki-Nakamura M, Suzuki S, Kobayashi A, Kita S, Sato I, Iwasaki M, Hirata Y, Sato A, Oka A,
Kamibeppu K. Development and validation of a Japanese version of the TRANSITION-Q. Pediatr
Int. 2021 Mar;63(3):270-278. DOI: 10.1111/ped.14398
12. Numoto S, Kurahashi H, Sato A, Kubota M, Shiihara T, Okanishi T, Tanaka R, Kuki I, Fukuyama T,
Kashiwagi M, Ikeno M, Kubota K, Akasaka M, Mimaki M, Okumura A. Acute encephalopathy inchildren with tuberous sclerosis complex. Orphanet J Rare Dis. 2021 Jan 6;16(1):5. DOI:
10.1186/s13023-020-01646-8
13. Nishida H, Kumada S, Komori T, Takai K, Mori H, Morino M, Suzuki H, Mashimo H, Inoue K,
Arisaka A, Fukuda M, Nakata Y. IVIG in childhood primary angiitis of the central nervous system: A
case report. Brain Dev. 2020 Oct;42(9):675-679. DOI: 10.1016/j.braindev.2020.06.007
14. Suzuki S, Kita S, Morisaki M, Kikuchi R, Sato I, Iwasaki M, Otomo E, Sekiguchi H, Hirata Y, Sato A,
Sugiyama M, Kamibeppu K. Nurses' perceptions regarding transitional care for adolescents and young
adults with childhood-onset chronic diseases. Jpn J Nurs Sci. 2020 Jul;17(3):e12323. DOI:
10.1111/jjns.12323
15. Takai Y, Misu T, Kaneko K, Chihara N, Narikawa K, Tsuchida S, Nishida H, Komori T, Seki M,
Komatsu T, Nakamagoe K, Ikeda T, Yoshida M, Takahashi T, Ono H, Nishiyama S, Kuroda H,
Nakashima I, Suzuki H, Bradl M, Lassmann H, Fujihara K, Aoki M; Japan MOG-antibody Disease
Consortium. Myelin oligodendrocyte glycoprotein antibody-associated disease: animmunopathological study. Brain. 2020 May 1;143(5):1431-1446. DOI: 10.1093/brain/awaa102
16. 巻和佳奈、森貴幸、柿本優、竹中暁、葛西真梨子、下田木の実、佐藤敦志、岡 明、佐久間啓、水口雅．多彩な高次脳機能障害をきたした重症マイコプラズマ脳炎．日本小児科学会
雑誌，2020, 124(1), 55-62．

17. 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 Nov;100:60-66. DOI: 10.1016/j.pediatrneurol.2019.05.006
18. Shibata A, Kasai M, Hoshino A, Miyagawa T, Matsumoto H, Yamanaka G, Kikuchi K, Kuki I,
Kumakura A, Hara S, Shiihara T, Yamazaki S, Ohta M, Yamagata T, Takanashi JI, Kubota M, Oka A,
Mizuguchi M. Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factorof overall acute encephalopathy. Brain Dev. 2019 Nov; 41(10): 862-869. DOI:
10.1016/j.braindev.2019.07.008
19. 割田陽子，佐藤敦志，犬塚亮，樋渡光輝，本田京子，佐竹和代，小林智明，白木尚，岡明．
子どもの権利と療養環境する

子どもの自律を視野に連携する

子どものもつ力を信じて支援

多職種で行う小児の画像検査プレパレーション．小児保健研究，2019, 78(6), 565-

570．
20. Fukui KO, Kubota M, Terashima H, Ishiguro A, Kashii H. Early administration of vitamins B1 andB6 and l-carnitine prevents a second attack of acute encephalopathy with biphasic seizures and late
reduced diffusion: A case control study. Brain Dev. 2019 Aug;41(7):618-624. DOI:
10.1016/j.braindev.2019.02.015
21. Nozawa M, Terashima H, Tsuji S, Kubota M. A Simplified Electroencephalogram Monitoring
System in the Emergency Room. Pediatr Emerg Care. 2019 Jul;35(7):487-492. DOI:
10.1097/PEC.0000000000001033
22. 岩﨑美和、佐藤敦志、中村真由美、鈴木征吾、小林明日香、キタ幸子、佐藤伊 織、上別府
圭子、平田陽一郎．当院における移行期支援外来の取り組みと課題～他疾患と比較した循環器疾患患者の特徴に焦点を当てて～．日本成人先天性心疾患学会雑誌，2019, 8(2), 33-41．
23. 奥野安由，山中純子，吉本優里，大熊喜彰，兼重昌夫，田中瑞恵，瓜生英子，水上愛弓，五石圭司，佐藤典子，佐藤敦志，七野浩之．大腸菌性脳室炎の 2 新生児例．日本小児科学会
雑誌、2019, 123(6), 1023-1031．
24. Kumagai T, Terashima H, Uchida H, Fukuda A, Kasahara M, Kosuga M, Okuyama T, Tsunoda T,
Inui A, Fujisawa T, Narita A, Eto Y, Kubota M. A case of Niemann-Pick disease type C withneonatal liver failure initially diagnosed as neonatal hemochromatosis. Brain Dev. 2019
May;41(5):460-464. DOI: 10.1016/j.braindev.2019.01.004
25. Uchino S, Iida A, Sato A, Ishikawa K, Mimaki M, Nishino I, Goto YI. A novel compound
heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome. Hum Genome
Var. 2019 Apr 19;6:19. DOI: 10.1038/s41439-019-0050-1
26. Nguyen TQN, Doan NMT, Trinh HT, Mizuguchi M. Novel mutation in EFCAB7 alters expression

and interaction of Ellis-van Creveld ciliary proteins. Congenit Anom (Kyoto). 2019 Mar;59(2):49-50.
DOI: 10.1111/cga.12291
27. Kanamori K, Terashima H, Anzai M, Ishiguro A, Kubota M. Prolonged mild disturbance of
consciousness and acute encephalopathy. Pediatr Int. 2019 Feb;61(2):175-179. DOI:
10.1111/ped.13753
28. Kotajima-Murakami H, Kobayashi T, Kashii H, Sato A, Hagino Y, Tanaka M, Nishito Y, Takamatsu
Y, Uchino S, Ikeda K. Effects of rapamycin on social interaction deficits and gene expression in mice
exposed to valproic acid in utero. Mol Brain. 2019 Jan 8;12(1):3. DOI: 10.1186/s13041-018-0423-2
29. Okubo M, Iida A, Hayashi S, Mori-Yoshimura M, Oya Y, Watanabe A, Arahata H, El Sherif R,
Noguchi S, Nishino I. Three novel recessive DYSF mutations identified in three patients with muscular
dystrophy, limb-girdle, type 2B. J Neurol Sci. 2018 Dec 15;395:169-171. DOI:
10.1016/j.jns.2018.10.015
30. Tanaka M, Sato A, Kasai S, Hagino Y, Kotajima-Murakami H, Kashii H, Takamatsu Y, Nishito Y,
Inagaki M, Mizuguchi M, Hall FS, Uhl GR, Murphy D, Sora I, Ikeda K. Brain hyperserotonemia
causes autism-relevant social deficits in mice. Mol Autism. 2018 Nov 26;9:60. DOI:
10.1186/s13229-018-0243-3
31. Suganuma E, Oka A, Sakata H, Adachi N, Asanuma S, Oguma E, Yamaguchi A, Furuichi M, Uejima
Y, Sato S, Takano T, Kawano Y, Tanaka R, Arai T, Oh-Ishi T. 10-year follow-up of congenital
cytomegalovirus infection complicated with severe neurological findings in infancy: a case report.
BMC Pediatr. 2018 Nov 23;18(1):369. DOI: 10.1186/s12887-018-1348-8
32. Kosaki R, Ono H, Terashima H, Kosaki K. Timothy syndrome-like condition with syndactyly but
without prolongation of the QT interval. Am J Med Genet A. 2018 Jul;176(7):1657-1661. DOI:
10.1002/ajmg.a.38833
33. Suzuki N, Mutai H, Miya F, Tsunoda T, Terashima H, Morimoto N, Matsunaga T. A case report ofreversible generalized seizures in a patient with Waardenburg syndrome associated with a novel
nonsense mutation in the penultimate exon of SOX10. BMC Pediatr. 2018 May 23;18(1):171. DOI:
10.1186/s12887-018-1139-2
34. Ishiyama A, Muramatsu K, Uchino S, Sakai C, Matsushima Y, Makioka N, Ogata T, Suzuki E, Komaki
H, Sasaki M, Mimaki M, Goto YI, Nishino I. NDUFAF3 variants that disrupt mitochondrial complex I
assembly may associate with cavitating leukoencephalopathy. Clin Genet. 2018 May;93(5):1103-1106.
DOI: 10.1111/cge.13215
35. Nakagama Y, Inuzuka R, Ichimura K, Hinata M, Takehara H, Takeda N, Kakiuchi S, Shiraga K,
Asakai H, Shindo T, Hirata Y, Saitoh M, Oka A. Accelerated Cardiomyocyte Proliferation in theHeart of a Neonate with LEOPARD Syndrome-Associated Fatal Cardiomyopathy. Circ Heart Fail.
2018 Apr;11(4):e004660. DOI: 10.1161/CIRCHEARTFAILURE.117.004660
36. Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A,

Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K,
Saitsu H, Matsumoto. De Novo Hotspot Variants in CYFIP2 Cause Early-Onset Epileptic
Encephalopathy. Ann Neurol. 2018 Apr;83(4):794-806. DOI: 10.1002/ana.25208
37. Koyano S, Morioka I, Oka A, Moriuchi H, Asano K, Ito Y, Yoshikawa T, Yamada H, Suzutani T,
Inoue N; Japanese Congenital Cytomegalovirus Study Group. Congenital cytomegalovirus in
Japan: More than 2 year follow up of infected newborns. Pediatr Int. 2018 Jan;60(1):57-62. DOI:
10.1111/ped.13433
38. Fujii T, Oka A, Morioka I, Moriuchi H, Koyano S, Yamada H, Saito S, Sameshima H, Nagamatsu T,
Tsuchida S, Inoue N; Japanese Congenital Cytomegalovirus Study Group. Newborn Congenital
Cytomegalovirus Screening Based on Clinical Manifestations and Evaluation of DNA-based Assays
for In Vitro Diagnostics. Pediatr Infect Dis J. 2017 Oct;36(10):942-946. DOI:
10.1097/INF.0000000000001630
39. Kuroda Y, Mizuno Y, Mimaki M, Oka A, Sato Y, Ogawa S, Kurosawa K. Two patients with 19p13.2
deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay,
and epilepsy. Clin Dysmorphol. 2017 Oct;26(4):224-227. DOI: 10.1097/MCD.0000000000000185
40. Okubo M, Goto K, Komaki H, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi
S, Kimura E, Nishino I. Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Orphanet J Rare Dis. 2017 Aug 31;12(1):149. DOI: 10.1186/s13023-017-0703-4
41. Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T,
Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R,
Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N.
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain
calcifications and cysts. Clin Genet. 2017 Aug;92(2):180-187. DOI: 10.1111/cge.12991
42. Shimoda K, Mimaki M, Fujino S, Takeuchi M, Hino R, Uozaki H, Hayashi M, Oka A, Mizuguchi M.
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. Brain Dev. 2017
Aug;39(7):629-632. DOI: 10.1016/j.braindev.2017.02.007
43. Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J,
Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, AndoN, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N,
Yoshimori T, Saitoh S. Defects in autophagosome-lysosome fusion underlie Vici syndrome, aneurodevelopmental disorder with multisystem involvement. Sci Rep. 2017 Jun 14;7(1):3552. DOI:
10.1038/s41598-017-02840-8
44. Ohta S, Isojima T, Mizuno Y, Kato M, Mimaki M, Seki M, Sato Y, Ogawa S, Takita J, Kitanaka S,
Oka A. Partial monosomy of 10p and duplication of anothr chromosome in two patients. Pediatr Int.
2017 Jan;59(1):99-102. DOI: 10.1111/ped.13181

45. Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K,
Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N,
Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima
K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M,
Nakashima M, Saitsu H, Takeda S, Matsumoto N. Molecular genetic analysis of 30 families with
Joubert syndrome. Clin Genet. 2016 Dec;90(6):526-535. DOI: 10.1111/cge.12836
46. Yamaguchi Y, Torisu H, Kira R, Ishizaki Y, Sakai Y, Sanefuji M, Ichiyama T, Oka A, Kishi T, Kimura
S, Kubota M, Takanashi J, Takahashi Y, Tamai H, Natsume J, Hamano S, Hirabayashi S, Maegaki Y,
Mizuguchi M, Minagawa K, Yoshikawa H, Kira J, Kusunoki S, Hara T. A nationwide survey ofpediatric acquired demyelinating syndromes in Japan. Neurology. 2016 Nov 8;87(19):2006-2015.
DOI: 10.1212/WNL.0000000000003318
47. Kurata H, Terashima H, Nakashima M, Okazaki T, Matsumura W, Ohno K, Saito Y, Maegaki Y,
Kubota M, Nanba E, Saitsu H, Matsumoto N, Kato M. Characterization of SPATA5-related
encephalopathy in early childhood. Clin Genet. 2016 Nov;90(5):437-444. DOI: 10.1111/cge.12813
48. Nishimura N, Higuchi Y, Kimura N, Nozaki F, Kumada T, Hoshino A, Saitoh M, Mizuguchi M.
Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome. Pediatr Int.
2016 Nov;58(11):1215-1218. DOI: 10.1111/ped.13119
49. Hoshino A, Saitoh M, Miyagawa T, Kubota M, Takanashi JI, Miyamoto A, Tokunaga K, Oka A,
Mizuguchi M. Specific HLA genotypes confer susceptibility to acute necrotizing encephalopathy.
Genes Immun. 2016 Sep;17(6):367-369. DOI: 10.1038/gene.2016.32
50. Kono Y, Oka A, Tada H, Itabashi K, Matsui E, Nakamura Y. Perinatal dioxin exposure andpsychosocial and behavioral development in school-aged children. Early Hum Dev. 2015
Sep;91(9):499-503. DOI: 10.1016/j.earlhumdev.2015.06.001
51. 柴田 明子, 山本 真梨子, 渡邊 優, 寺嶋 宙, 柏井 洋文, 久保田 雅也, 師田 信 人．
Baclofen 持続髄注療法の機能不全の診断に RI シンチグラフィが役立った脳室腹腔シャントを有する男児例．脳と発達，2015, 47(5), 367-371．
52. Sato A. mTOR, a potential target to treat autism spectrum disorder. CNS Neurol Disord Drug
Targets. 2016 Jun;15(5):533-543. DOI: 10.2174/1871527315666160413120638
53. Yui K, Sato A, Imataka G. Mitochondrial dysfunction and its relationship with mTOR signaling andoxidative damage in autism spectrum disorders. Mini Rev Med Chem, 2015 Aug;15(5):373-389. DOI:
10.2174/1389557515666150324122930
54. Taniguchi R, Koyano S, Suzutani T, Goishi K, Ito Y, Morioka I, Nakamura H, Yamada H, Oka A,
Inoue N. A Thr72Ala polymorphism in the NKG2D gene is associated with early symptomaticcongenital cytomegalovirus disease. Infection. 2015 Jun;43(3):353-359. DOI: 10.1007/s15010-015-

0774-x55. 古田島（村上）浩子，佐藤敦志，池田和隆．自閉症スペクトラム障害の病態解明と治療薬開発を目指して 自閉症スペクトラム障害の分子薬理学的研究．日本薬理学会雑誌，2015,
145(4), 193-200.
56. 佐藤敦志，高松幸雄，笠井慎也，小林敏之，樋野興夫，池田和隆，水口雅．Tsc2
haploinsufficiency is associated with more severe autism-related behavioral deficits in mouse models
of tuberous sclerosis complex.

日本神経精神薬理学会雑誌，2015, 35(2) 51-52．

57. Takamatsu Y, Hagino Y, Sato A, Takahashi T, Nagasawa SY, Kubo Y, Mizuguchi M, Uhl GR, Sora I,
Ikeda K. Improvement of learning and increase in dopamine level in the frontal cortex bymethylphenidate in mice lacking dopamine transporter. Curr Mol Med, 2015 Mar;15(3):245-252.
DOI: 10.2174/1566524015666150330144018
58. Hoshino H, Kubota M. Canavan disease: clinical features and recent advances in research. Pediatr Int.
2014 Aug;56(4):477-483. DOI: 10.1111/ped.12422
59. Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T,
Saitsu H, Matsumoto N. Novel compound heterozygous PIGT mutations caused multiple congenital
anomalies-hypotonia-seizures syndrome 3. Neurogenetics. 2014 Aug;15(3):193-200. DOI:
10.1007/s10048-014-0408-y
60. Akamatsu T, Dai H, Mizuguchi M, Goto Y, Oka A, Itoh M. LOX-1 is a novel therapeutic target inneonatal hypoxic-ischemic encephalopathy. Am J Pathol. 2014 Jun;184(6):1843-1852. DOI:
10.1016/j.ajpath.2014.02.022
61. 佐藤敦志，笠井慎也，小林敏之，高松幸雄，樋野興夫，池田和隆，水口雅．結節性硬化症モ
デルマウスの自閉症様行動における mTOR シグナル系の関与．日本神経精神薬理学会雑誌，
2014, 34(2), 51-52．
62. Kataoka M, Aimi Y, Yanagisawa R, Ono M, Oka A, Fukuda K, Yoshino H, Satoh T, Gamou
S. Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in
heritable pulmonary arterial hypertension. Genet Med. 2013 Dec;15(12):941-947. DOI:
10.1038/gim.2013.41
63. Taniguchi R, Koyano S, Suzutani T, Goishi K, Ito Y, Morioka I, Oka A, Nakamura H, Yamada H,
Igarashi T, Inoue N. Polymorphisms in TLR-2 are associated with congenital cytomegalovirus (CMV)
infection but not with congenital CMV disease. Int J Infect Dis. 2013 Dec;17(12):e1092-1097. DOI:
10.1016/j.ijid.2013.06.004
64. Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M,
Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N,Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato
A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima
M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. MLL2 and KDM6A mutations inpatients with Kabuki syndrome. Am J Med Genet A. 2013 Sep;161(9):2234-2243. DOI:
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＜受賞歴＞
2020年


西田裕哉：第62回日本小児神経学会学術集会 若手優秀 English Session 賞
Validity of the anti-NMDAR encephalitis clinical diagnostic criteria in Japanese pediatricpatients.

2019年


西田裕哉：第61回日本小児神経学会学術集会 優秀English session賞
Movement disorders and/or epileptic encephalopathies due to GNAO1 mutation: a report offour cases.

2018 年
大久保真理子：Elsevier WMS Membership Award
Nonsense mutation induced exon skipping in Becker muscular dystrophy.

佐藤敦志：第 28 回日本臨床精神神経薬理学会 第 48 回日本神経精神薬理学会
合同年会 優秀プレゼンテーション賞
mTOR 阻害剤を使用中の結節性硬化症患者における自閉症症状の変化．

2017 年


柏井洋文：JSNP Excellent Presentation Award for AsCNP 2017
Rapamycin treatment of impaired social behavior in adolescent Tsc2+/- mice.

柏井洋文：第 47 回日本神経精神薬理学会学生優秀発表賞
Tsc2 ヘテロ欠損マウスの自閉症様行動に対する rapamycin の継続投与の効果とその副作用の検討2015 年Sato Atsushi: Best Poster Award in 13th AOCCN
Tsc2 haploinsufficiency causes more severe autistic-like behavioral deficit than Tsc1 inmice.

2014 年Sato Atsushi: JSNP Excellent Presentation Award for CINP 2014 Vancouver
Tsc2 happloinsufficiency is associated with the more severe autism-related behavioral
deficits in mouse models of tuberous sclerosis complex.

2013 年Sato Atsushi: JSNP Excellent Presentation Award for AsCNP 2013 Beijing (Sep 11-14)
Causal role of unregulated mTOR signaling in autism-related behavioral deficits inmouse models of tuberous sclerosis complex.

Sato Atsushi: Best Poster Award of AsCNP 2013
Causal role of unregulated mTOR signaling in autism-related behavioral deficits in mousemodels of tuberous sclerosis complex.



星野愛：第 55 回日本小児神経学会学術集会 優秀論文賞



西田裕哉：第55回日本小児神経学会学術集会

優秀ポスター賞

2012 年


三牧正和：2012 JSCN Award for Excellent Abstract



石井礼花：平成 24 年度日本医師会医学研究奨励賞
思春期注意欠如多動性障害へのペアレントトレーニングは愛着の神経基盤を変化させるか2011 年Sato Atsushi: The 2nd Congress of Asian College of Neuropsychopharmacology,
Young Investigator Fellowship Award
Autism-like Behaviors in Mouse Models of Tuberous Sclerosis Complex and Their
Recovery by Rapamycin.

Sato Atsushi: The 2nd Congress of Asian College of Neuropsychopharmacology,
New Research Award
Autism-like Behaviors in Mouse Models of Tuberous Sclerosis Complex and Their
Recovery by Rapamycin.