業績

【2022年】

準備中

【2021年】

Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T.
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
Brain Dev. 2021;43:402-10.

 

Ikeda A, Ueda H, Matsui K, Iai M, Goto T.
Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.
Pediatr Int. 2021;63:352-4.

 

Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y.
Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.
Brain Dev. 2021;43:2-31.

 

Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat. 2021;42:50-65.

 

Baba S, Okanishi T, Homma Y, Yoshida T, Goto T, Fukasawa T, Kobayashi S, Kamei A, Fujii Y, Hino-Fukuyo N, Yamada K, Daida A, Kawawaki H, Hoshino H, Sejima H, Ishida Y, Okazaki T, Inui T, Kanai S, Motoi H, Itamura S, Nishimura M, Enoki H, Fujimoto A.
Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series.
Epilepsia Open. 2021;6:402-12.

 

Miyamoto S, Kato M, Hiraide T, Shiohama T, Goto T, Hojo A, Ebata A, Suzuki M, Kobayashi K, Chong PF, Kira R, Matsushita HB, Ikeda H, Hoshino K, Matsufuji M, Moriyama N, Furuyama M, Yamamoto T, Nakashima M, Saitsu H.
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
J Hum Genet. 2021;66:1061-8.

 

Kobayashi Y, Tohyama J, Takahashi Y, Goto T, Haginoya K, Inoue T, Kubota M, Fujita K, Honda R, Ito M, Kishimoto K, Nakamura K, Sakai Y, Takanashi J, Tanaka M, Tanda K, Tominaga K, Yoshioka S, Kato M, Nakashima M, Saitsu H, Matsumoto N.
Clinical manifestations and epilepsy treatment in Japanese patients with CDKL5 mutations.
Brain Dev. 2021;43:505-14.

 

Takeshita S, Saito Y, Oyama Y, Watanabe Y, Ikeda A, Iai M, Sato T, Ishigaki K, Ito SI.
Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy.
Brain Dev. 2021;43:440-7.

 

後藤知英.
ポリオ(急性灰白髄炎).
今日の治療指針2021、p183-4、医学書院、2021.

 

後藤知英.
運動麻痺、歩行異常.
水口雅・山形祟倫 編集、クリニカルガイド小児科 専門医の診断・治療、p141-7、南山堂、2021.

 

後藤知英.
Sjögren-Larsson症候群.
画像で診る遺伝性白質疾患 診断の手引き(厚生労働科学研究費補助金難治性疾患政策研究事業遺伝性白質疾患・知的障害をきたす疾患の診断・治療・研究システム構築班編集)、p100-1、診断と治療社、2021.

 

露崎悠、柴崎淳、田中紀子、新保裕子.
West症候群を発症しケトン食療法が有効であったピルビン酸脱水素酵素複合体欠損症の1例.
特殊ミルク情報(先天性代謝異常症の治療) 2021;56:11-4.

 

【2020年】

Tsuji M, Tanaka M, Tanaka Y, Ikeda A, Tsuyusaki Y, Goto T, Iai M.
Autopsy report of a woman with infantile Alexander disease who survived 39 years.
Neuropediatrics. 2020;51:298-301.

 

Uemura T, Ito S, Masuda T, Shimbo H, Goto T, Osaka H, Wada T, Couraud PO, Ohtsuki S.
Cyclocreatine transport by SLC6A8, the creatine transporter, in HEK293 cells, a human blood-brain barrier model cell, and CCDSs patient-derived fibroblasts.
Pharm Res. 2020;37:61.

 

Kasai M, Shibata A, Hoshino A, Maegaki Y, Yamanouchi H, Takanashi JI, Yamagata T, Sakuma H, Okumura A, Nagase H, Ishii A, Goto T, Oka A, Mizuguchi M.
Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014-2017.
Brain Dev. 2020;42:508-14.

 

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N.
Nonsense variants in STAG2 result in distinct congenital anomalies.
Hum Genome Var. 2020;7:26.

 

Nishimura N, Kumaki T, Murakami H, Enomoto Y, Tsurusaki Y, Tsuji M, Tsuyusaki Y, Goto T, Aida N, Kurosawa K.
Expanding the phenotype of COL4A1-related disorders-Four novel variants.
Brain Dev. 2020;42:639-45.

 

Kunii M, Doi H, Hashiguchi S, Matsuishi T, Sakai Y, Iai M, Okubo M, Nakamura H, Takahashi K, Katsumoto A, Tada M, Takeuchi H, Ishikawa T, Miyake N, Saitsu H, Matsumoto N, Tanaka F.
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
J Neurol Sci. 2020;416:117047.

 

Norioka R, Kumada S, Tobisawa S, Tsuyusaki Y, Isozaki E.
Clinical characteristics of children and adults with anti-N-methyl-D-aspartate receptor encephalitis.
Clin Neurol Neurosurg. 2020;196:106015.

 

Taoka T, Aida N, Fujii Y, Ichikawa K, Kawai H, Nakane T, Ito R, Naganawa S.
White matter microstructural changes in tuberous sclerosis: Evaluation by neurite orientation dispersion and density imaging (NODDI) and diffusion tensor images.
Sci Rep. 2020;10:436.

 

坂口友理、志村和浩、三山佐保子、後藤知英.
West症候群に対する副腎皮質刺激ホルモン療法後の視床下部-下垂体-副腎皮質機能の検討. 脳と発達、2020;52:11-5.

 

後藤知英.
日本脳炎、その他の急性ウイルス性脳炎.
今日の治療指針2020、p189-90、医学書院、2020.

 

後藤知英.
泣き入りひきつけ(憤怒けいれん).
今日の治療指針2020、p1525、医学書院、2020.

 

【2019年】

Ikeda A, Yamamoto A, Ichikawa K, Tsuyusaki Y, Tsuji M, Iai M, Enomoto Y, Murakami H, Kurosawa K, Miyatake S, Matsumoto N, Goto T.
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.
Epilepsy Behav Rep. 2019;13:100349.

 

Ichikawa K, Tsuji M, Tsuyusaki Y, Tomiyasu M, Aida N, Goto T.
Serial magnetic resonance imaging and 1H-magnetic resonance spectroscopy in GABA transaminase deficiency: A case report.
JIMD Rep. 2019;43:7-12.

 

Ichikawa K, Tsuyusaki Y, Shimbo H, Goto T.
Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene.
Pediatr Int. 2019;61:1055-6.

 

Ikeda A, Watanabe Y, Kaba H, Kaneko K, Takahashi T, Takeshita S.
MRI findings in pediatric neuromyelitis optica spectrum disorder with MOG antibody: Four cases and review of the literature.
Brain Dev. 2019;41:367-72.

 

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N.
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. 
Nat Commun. 2019;10:2506. 

 

Hongo Y, Kaneko J, Suga H, Ishima D, Kitamura E, Akutsu T, Onozawa Y, Kanazawa N, Goto T, Nishiyama K, Iizuka T.
A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features.
J Neurol. 2019;266:1459-72.

 

Tulyeu J, Tamaura M, Jimbo E, Shimbo H, Takano K, Iai M, Yamashita S, Goto T, Aida N, Tokuhiro E, Yamagata T, Osaka H.
Aggregate formation analysis of GFAP(R416W) found in one case of Alexander disease.
Brain Dev. 2019;41:195-200.

 

Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Akahira-Azuma M, Kuroda Y, Tsuji M, Goto T, Kurosawa K.
Discordant phenotype caused by CASK mutation in siblings with NF1.
Hum Genome Var. 2019;6:20.

 

Uchida K, Shimizu H, Nagafuchi H, Yamamoto A, Ono S.
Severe cardiac dysfunction induced by thiopental sodium.
Pediatr Int. 2019;61:1270-2.

 

Yokoi T, Sei K, Enomoto Y, Naruto T, Kurosawa K.
Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy.
Pediatr Int. 2019;61:1169-71.

 

Hiraide T, Kaba-Yasui H, Kato M, Nakashima M, Saitsu H.
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.
J Hum Genet. 2019;64:1127-32.

 

Kuroda Y, Murakami H, Yokoi T, Kumaki T, Enomoto Y, Tsurusaki Y, Kurosawa K.
Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon.
Brain Dev. 2019;41:538-41.

 

田中史枝、後藤知英、小川恵梨、守山汐理、伊藤麻美、黒澤健司、小崎健次郎.
Carbamazepine、gabapentin、lamotrigineにて発作予防の治療を行った家族性小児四肢疼痛発作症の1例.
脳と発達、52:266-70、2019.

 

後藤知英.
けいれん、意識障害(けいれん、意識障害、急性脳炎、急性脳症).
神奈川県立こども医療センター小児内科・小児外科 小児科当直医マニュアル、改訂第15版、診断と治療社、p23-40, 2019.

 

吉田菜穂子、後藤知英.
‟少しちがう”ときは撮ってみる.
臨床写真図鑑、総合診療、29;2019:1319-20.

 

後藤知英、原恵子、宮本雄策、中村千穂.
ドクター座談会 移行期医療について考える.
波(日本てんかん協会)、2019;43:275-83.

 

井合瑞江.
体の緊張、筋肉の緊張を和らげる薬.
手足の不自由な子どもたち「はげみ」(日本肢体不自由児協会)、2019;389:13-8.

 

【2018年】

Ikeda A, Yamashita S, Tsuyusaki Y, Tanaka M, Tanaka Y, Hashiguchi A, Takashima H, Goto T.
Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1.
Brain Dev. 2018;40:155-8.

 

Ikeda A, Tsuji M, Goto T, Iai M.
Long-term home non-invasive positive pressure ventilation in children: Results from a single center in Japan.
Brain Dev. 2018;40:558-65.

 

Kouga T, Takagi M, Miyauchi A, Shimbo H, Iai M, Yamashita S, Murayama K, Klein MB, Miller G, Goto T, Osaka H.
Japanese Leigh syndrome case treated with EPI-743.
Brain Dev. 2018;40:145-9.

 

Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H.
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Brain. 2018;141:1622-36.

 

Ikeda T, Osaka H, Shimbo H, Tajika M, Yamazaki M, Ueda A, Murayama K, Yamagata T.
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.
Hum Genome Var. 2018;5:25.

 

Itai T, Ishikawa H, Kurosawa K, Tsuyusaki Y.
A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome.
Clin Case Rep. 2018;6:1474-7.

 

高嶋裕美子、池田梓、辻恵、露崎悠、市川和志、相田典子、後藤知英.
軽微な頭部外傷後の基底核脳梗塞におけるmineralizing angiopathyの関与についての検討.
脳と発達、2018;50:264-8.

 

後藤知英.
よく遭遇する疾患の身体診察 小児救急的神経学的診察(運動障害・運動失調).
今さら聞けない?小児救急の総復習、小児科診療、2018;81:489-94.

 

後藤知英.
乳幼児健診における発達評価の要点.
神奈川県立こども医療センター医学誌、2018;47:28-30.

 

井合瑞江.
重症心身障害児への働きかけに関する研究.
神奈川県立こども医療センター医学誌、2018;47:112-4.

 

成健史、後藤知英.
けいれん・意識障害への救急対応 入院後のモニタリングはどうするか.
特集 けいれん・意識障害、小児内科2018;50:518-21.

 

後藤知英(分担執筆).
インフルエンザ脳症の診療戦略.
日本医療研究開発機構研究費(新興・再興感染症に対する革新的医薬品等開発推進研究事業)「新型インフルエンザ等への対応に関する研究」班、インフルエンザ脳症に診療戦略策定委員会、診断と治療社、2018.

 

井合瑞江.
重症心身障害児施設のミキサー食.
小沢浩・大高美和 編集、おかあさんのレシピから学ぶ 医療的ケア児のミキサー食、南山堂、2018.

 

【2017年】

Enokizono M, Aida N, Niwa T, Osaka H, Naruto T, Kurosawa K, Ohba C, Suzuki T, Saitsu H, Goto T, Matsumoto N.
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
J Neurol Sci. 2017;376:7-12.

 

Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL.
Phenotype of GABA-transaminase deficiency.
Neurology. 2017;88:1919-24.

 

Minatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ.
Expansion of the phenotype of Kosaki overgrowth syndrome.
Am J Med Genet A. 2017;173:2422-7.

 

Yuan JH, Hashiguchi A, Yoshimura A, Yaguchi H, Tsuzaki K, Ikeda A, Wada-Isoe K, Ando M, Nakamura T, Higuchi Y, Hiramatsu Y, Okamoto Y, Takashima H.
Clinical diversity caused by novel IGHMBP2 variants.
J Hum Genet. 2017;62:599-604.

 

Akiyama T, Hayashi Y, Hanaoka Y, Shibata T, Akiyama M, Nakamura K, Tsuyusaki Y, Kubota M, Yoshinaga H, Kobayashi K.
Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children.
Clin Chim Acta. 2017;465:5-10.

 

池田梓、高嶋裕美子、露崎悠、市川和志、相田典子、後藤知英.
小児の脳静脈洞血栓症5例の臨床的および画像的検討.
脳と発達、2017;49:396-400.

 

玉井郁夫、横田俊平、後藤知英、渡辺好宏、和田敬仁、小坂仁.
インフルエンザ脳症発症例と未発症例における臨床徴候の比較.
日本小児科学会雑誌、2017;121:855-62.

 

坂口友理、後藤知英、三山佐保子.
一度の有熱時けいれん重積後に不可逆性の脳虚血性変化病変を認めたSturge-Weber症候群 typeⅢの1例.
脳と発達、2017;49:126-9.

 

大田倫美、浅沼宏、後藤知英、宍戸清一郎、幡谷浩史、三山佐保子.
免疫抑制薬内服中に発症したEpstein-Barrウイルスによる脊髄炎の1例.
脳と発達、2017;49:279-82.

 

市川和志、成健史、池田梓、高嶋裕美子、露崎悠、辻恵、岩崎史記、伊藤進、後藤知英.
てんかん発作にバルプロ酸ナトリウムが著効した大脳神経膠腫症の小児例.
神奈川県立こども医療センター医学誌、2017;46:97-101.

 

後藤知英.
スタージ・ウェーバー症候群(Sturge-Weber syndrome).
特集 母斑・母斑症Update、小児科、2017;58:1213-7.

 

高嶋裕美子、後藤知英.
乳幼児期発症の中枢神経感染症、免疫性疾患 ‐急性疾患を中心に‐.
乳幼児期発症神経疾患のファーストタッチから専門診療へ、小児科診療、2017;80:313-20.

 

後藤知英.
神経学的検査.
日本小児神経学会 編集、小児神経専門医テキスト、診断と治療社、2017.

 

後藤知英.
子どものけいれん.
井上信明 監修、安藤恵美子 編集、Medical Note presents こどもの「症状」から考える 外来小児診療 伝え方の極意、中外医学社、2017.

 

【2016年】

Tsuji M, Takahashi Y, Watabe AM, Kato F.
Enhanced long-term potentiation in mature rats in a model of epileptic spasms with betamethasone-priming and postnatal N-methyl-D-aspartate administration.
Epilepsia. 2016;57:495-505.

 

Ichikawa K, Numasawa K, Takeshita S, Hashiguchi A, Takashima H.
Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.
Pediatr Int. 2016;58:1252-4.

 

Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
De novo DNM1 mutations in two cases of epileptic encephalopathy.
Epilepsia. 2016;57:e18-23.

 

Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thöny B, Saitsu H, Matsumoto N, Osaka H, Yamagata T.
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
Brain Dev. 2016;38:959-63.

 

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, M Trejo-Gabriel-Galán J, Trefz F, Tsuji M, Vilaseca A, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Inherit Metab Dis. 2016;39:115-24.

 

Sato R, Takanashi J, Tsuyusaki Y, Kato M, Saitsu H, Matsumoto N, Takahashi T.
Association between invisible basal ganglia and ZNF335 mutations: A case report.
Pediatrics. 2016 ;138. pii: e20160897.

 

Sato T, Muroya K, Hanakawa J, Yamashita S, Nozawa K, Masudo K, Yamakawa T, Asakura Y, Hasegawa T, Adachi M.
Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report.
Clin Pediatr Endocrinol. 2016;25:91-8.

 

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;90:526-35.

 

Akiyama T, Osaka H, Shimbo H, Kuhara T, Shibata T, Kobayashi K, Kurosawa K, Yoshinaga H. 
SSADH deficiency possibly associated with enzyme activity-reducing SNPs. 
Brain Dev. 2016;38:871-4. 

 

Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N.
WDR45 mutations in three male patients with West syndrome.
J Hum Genet. 2016;61:653-61.

 

Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N.
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Brain Dev. 2016;38:571-80.

 

Omata T, Nagai J, Shimbo H, Koizume S, Miyagi Y, Kurosawa K, Yamashita S, Osaka H, Inoue K.
A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.
Brain Dev. 2016;38:581-4.

 

Murakami A, Tanaka M, Ijiri R, Kato K, Yamashita S, Kurosawa K, Arai N, Aoki I, Tanaka Y.
A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18.
Pathol Int. 2016 ;66:15-22.

 

後藤知英(分担執筆).
小児急性脳症診療ガイドライン2016.
日本小児神経学会・小児急性脳症診療ガイドライン策定委員会 編集、診断と治療社、2016.

 

後藤知英.
急性脳症.
五十嵐隆 監修, 三浦大・島袋林秀 編集、ガイドラインと最新文献で学ぶ小児科学レビュー、総合医学社、2016.

 

後藤知英.
けいれん、意識障害(けいれん、意識障害、急性脳炎、急性脳症).
小児科当直医マニュアル、改訂第14版、p20-40、診断と治療社、2016.

 

【2015年】

Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S, Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H.
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Brain Dev. 2015;37:638-42.

 

Tamaura M, Shimbo H, Iai M, Yamashita S, Osaka H.
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.
Brain Dev. 2015;37:442-5.

 

Kouga T, Shimbo H, Iai M, Yamashita S, Ishii A, Ihara Y, Hirose S, Yamakawa K, Osaka H.
Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome.
Brain Dev. 2015;37:243-9.

 

Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H.
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
Pediatr Int. 2015;57:324-6.

 

Iwata S, Ito M, Nakata T, Noguchi Y, Okuno T, Ohkawara B, Masuda A, Goto T, Adachi M, Osaka H, Nonaka R, Arikawa-Hirasawa E, Ohno K.
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space.
Neuromuscul Disord. 2015;25:667-71.

 

Ohba C, Haginoya K, Osaka H, Kubota K, Ishiyama A, Hiraide T, Komaki H, Sasaki M, Miyatake S, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
J Hum Genet. 2015;60:739-42.

 

Tada H, Takanashi J, Okuno H, Kubota M, Yamagata T, Kawano G, Shiihara T, Hamano S, Hirose S, Hayashi T, Osaka H, Mizuguchi M.
Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).
J Neurol Sci. 2015;358:62-5.

 

Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Epilepsia. 2015;56:e121-8.

 

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K.
Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
Am J Med Genet A. 2015;167:1349-53.

 

Kitagawa N, Shinkai M, Take H, Mochizuki K, Asano F, Usui H, Miyagi H, Kido T, Kurauchi N, Osaka H, Yamashita S.
Mediastinoscopic extended thymectomy for pediatric patients with myasthenia gravis.
J Pediatr Surg. 2015;50:528-30.

 

Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
J Hum Genet. 2015;60:97-101.

 

Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I.
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels.
Hum Mol Genet. 2015;24:637-48.

 

Miyake F, Kuroda Y, Naruto T, Ohashi I, Takano K, Kurosawa K.
West syndrome in a patient with Schinzel-Giedion syndrome.
J Child Neurol. 2015;30:932-6.

 

井合瑞江.
ピンポイント小児医療 栄養管理 重症心身障害におけるエネルギー消費量の測定.
小児内科、2015;47:1917-9.

 

市川和志.
症状から考える子どもの病気と看護 成人との比較を含めて けいれん.
小児看護 2015;38:312-5.

 

後藤知英・林雅晴・豊田圭子(監修).
続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―.
診断と治療社、2015.

 

池田梓.
けいれん、意識障害と両側視床に画像異常を認めた3歳男児.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p3-4、診断と治療社、2015.

 

渡邊肇子.
発熱に伴いけいれん、意識障害を呈した2歳女児.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p5-6、診断と治療社、2015.

 

露崎悠.
発達の遅れを主訴に受診した4歳男児.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p23-4、診断と治療社、2015.

 

佐藤睦.
易骨折性を認め、乳児期より退行を示した1歳男児.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p25-6、診断と治療社、2015.

 

露崎悠.
治療可能な小児神経疾患.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p33-4、診断と治療社、2015.

 

佐藤睦.
筋緊張と多発性皮下腫瘤を呈した5歳男児.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p37-8、診断と治療社、2015.

 

市川和志.
慢性頭痛、体重減少、嚥下障害を示した12歳女児.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p49-50、診断と治療社、2015.

 

荒井洋実、後藤知英.
外傷後、左半身の完全麻痺を呈した1歳男児.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p59-60、診断と治療社、2015.

 

安西理恵.
乳児期より発達遅滞・肝腫大を呈し、けいれんと退行を認めた1歳男児.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p107-9、診断と治療社、2015.

 

荒熊智宏、後藤知英.
退行、けいれん、聴覚過敏を呈した1歳男児.
後藤知英・林雅晴・豊田圭子(監修)、続・イメージからせまる小児神経疾患50 ―症例から学ぶ 診断・治療プロセス―、p109-10、診断と治療社、2015.

 

【2014年】

Shimbo H, Takagi M, Okuda M, Tsuyusaki Y, Takano K, Iai M, Yamashita S, Murayama K, Ohtake A, Goto YI, Aida N, Osaka H.
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.
Mol Genet Metab Rep. 2014;1:133-138.

 

Ohshiro-Sasaki A, Shimbo H, Takano K, Wada T, Osaka H.
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia.
Pediatr Neurol. 2014;50:99-100.

 

Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, Anzai R, Takagi M, Okuda M, Takano K, Wada T, Iai M, Yamashita S, Osaka H.
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.
Brain Dev. 2014;36:630-3.

 

Okabe T, Aida N, Niwa T, Nozawa K, Shibasaki J, Osaka H.
Early magnetic resonance detection of cortical necrosis and acute network injury associated with neonatal and infantile cerebral infarction.
Pediatr Radiol. 2014;44:597-604.

 

Shimbo H, Ninomiya S, Kurosawa K, Wada T.
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
J Hum Genet. 2014;59:408-10.

 

Wada T, Haddad MR, Yi L, Murakami T, Sasaki A, Shimbo H, Kodama H, Osaka H, Kaler SG.
A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.
Pediatr Neurol. 2014;50:417-20.

 

Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H.
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
Neurology. 2014 ;82:2230-7.

 

Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
Neurology. 2014;82:1587-96.

 

Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N.
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
J Hum Genet. 2014;59:687-90.

 

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Wada T, Kurosawa K.
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.
Am J Med Genet A. 2014;164A:2873-8.

 

Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
J Hum Genet. 2014 Aug;59(8):471-4.

 

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Iai M, Kurosawa K.
Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
Am J Med Genet A. 2014;164A:2104-8.

 

Matsui N, Ohigashi I, Tanaka K, Sakata M, Furukawa T, Nakagawa Y, Kondo K, Kitagawa T, Yamashita S, Nomura Y, Takahama Y, Kaji R.
Increased number of Hassall’s corpuscles in myasthenia gravis patients with thymic hyperplasia.
J Neuroimmunol. 2014;269:56-61.

 

Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S.
Genotype-phenotype correlations in alternating hemiplegia of childhood.
Neurology. 2014;82:482-90.

 

Takanashi J, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich AJ.
Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.
Brain Dev. 2014;36:259-63.

 

奥田美津子、後藤知英.
けいれん・意識障害.
ピンポイント小児医療 けいれんに関する知識 けいれんを起こす疾患の鑑別診断、小児内科、2014;46:1230-3.

 

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