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小児神経症例検討会（蔵王セミナー）関連の論文業績をまとめています。その時々で若干書式が異なるのはお許しください。
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Shiihara T, Kato M, Honma T, Ohtaki S, Sawaishi Y, Hayasaka K. Fluctuation of computed tomographic findings in white matter in Alexander's disease. J Child Neurol. 2002;17:227-30.
Shiihara T, Miyashita M, Yoshizumi M, Watanabe M, Yamada Y, Kato M.
Peripheral lymphocyte subset and serum cytokine profiles of patients with West syndrome. Brain Dev. 2010;32:695-702.
Shiihara T, Miyake T, Izumi S, Watanabe M, Kamayachi K, Kodama K, Nabetani M, Ikemiyagi M, Yamaguchi Y, Sawaura N. Serum and cerebrospinal fluid S100B, neuron-specific enolase, and total tau protein in acute encephalopathy with biphasic seizures and late reduced diffusion: A diagnostic validity. Pediatr Int. 2012;54:52-5.
Abe S, Okumura A, Hamano S, Tanaka M, Shiihara T, Aizaki K, Tsuru T, Toribe Y, Arai H, Shimizu T.
Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy. Brain Dev. 2011;33:28-34.
Okumura A, Uematsu M, Imataka G, Tanaka M, Okanishi T, Kubota T, Sudo A, Tohyama J, Tsuji M, Ohmori I, Naiki M, Hiraiwa-Sofue A, Sato H, Saitoh S, Shimizu T.
Acute encephalopathy in children with Dravet syndrome. Epilepsia. 2012;53:79-86.
Shinohara M, Saitoh M, Takanashi J, Yamanouchi H, Kubota M, Goto T, Kikuchi M, Shiihara T, Yamanaka G, Mizuguchi M. Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. Brain Dev. 2011;33:512-7.
Ide S, Sasaki M, Kato M, Shiihara T, Kinoshita S, Takahashi JY, Goto Y. Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. Brain Dev. 2010;32:506-10.
Takanashi J, Barkovich AJ, Shiihara T, Tada H, Kawatani M, Tsukahara H, Kikuchi M, Maeda M. Widening spectrum of a reversible splenial lesion with transiently reduced diffusion. AJNR Am J Neuroradiol. 2006;27:836-8.
Takanashi J, Miyamoto T, Ando N, Kubota T, Oka M, Kato Z, Hamano S, Hirabayashi S, Kikuchi M, Barkovich AJ. Clinical and radiological features of rotavirus cerebellitis. AJNR Am J Neuroradiol. 2010;31:1591-5.
Tada H, Takanashi J, Barkovich AJ, Oba H, Maeda M, Tsukahara H, Suzuki M, Yamamoto T, Shimono T, Ichiyama T, Taoka T, Sohma O, Yoshikawa H, Kohno Y. Clinically mild encephalitis/encephalopathy with a reversible splenial lesion. Neurology. 2004;63:1854-8.
Ozawa H, Noma S, Yoshida Y, Sekine H, Hashimoto T. Acute disseminated encephalomyelitis associated with poliomyelitis vaccine. Pediatr Neurol. 2000;23:177-9.
Yamazaki S, Ikeno K, Abe T, Tohyama J, Adachi Y. Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation. Pediatr Neurol. 2011;45:193-6.
Okanishi T, Saito Y, Fujii S, Maegaki Y, Fukuda C, Tomita Y, Ohno K. Low signal intensity and increased anisotropy on magnetic resonance imaging in the white matter lesion after head trauma: unrecognized findings of diffuse axonal injury. J Neurol Sci. 2007;263:218-22.
Okanishi T, Ishikawa T, Kobayashi S, Ando N, Nishino I, Togari H, Nonaka I. Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: two sibling cases. Brain Dev. 2010;32:342-6.
Takanashi J, Tada H, Maeda M, Suzuki M, Terada H, Barkovich AJ.
Encephalopathy with a reversible splenial lesion is associated with hyponatremia. Brain Dev. 2009;31:217-20.
Takanashi J, Oba H, Barkovich AJ, Tada H, Tanabe Y, Yamanouchi H, Fujimoto S, Kato M, Kawatani M, Sudo A, Ozawa H, Okanishi T, Ishitobi M, Maegaki Y, Koyasu Y. Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy. Neurology. 2006;66:1304-9.
Sasaki M, Takanashi J, Tada H, Sakuma H, Furushima W, Sato N. Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev 2009;31:582-587.
Mizuno T, Sasaki M, Komaki H, Sakuma H, Saito Y, Nakagawa E, Sugai K, Saito Y, Nonaka I, Sawaishi Y. A case of congenital axonal neuropathy associated with West syndrome. Brain Dev 2011;33:692-696.
Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N. Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy. Am J Hum Genet. 2011;89:644-51.
遠山 潤，金澤 治，赤坂紀幸，上村孝則．意識障害で発症し，顔面，下肢の感覚障害と味覚障害を呈した両側性傍正中視床梗塞の1小児例． 脳と発達 36:65-69, 2004
Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H. De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen a2 Chain Cause Porencephaly. Am J Hum Genet. 2012;90:86-90.
Takanashi JI, Takahashi Y, Imamura A, Kodama K, Watanabe A, Tominaga K, Muramatsu K, Barkovich AJ. Late Delirious Behavior With 2009 H1N1 Influenza: Mild Autoimmune-Mediated Encephalitis? Pediatrics. 2012;129:e1068-71
Yoneda, Y., Haginoya, K., Kato, M., Osaka, H., Yokochi, K., Arai, H., Kakita, A., Yamamoto, T., Otsuki, Y., Shimizu, S.-i., Wada, T., Koyama, N., Mino, Y., Kondo, N., Takahashi, S., Hirabayashi, S., Takanashi, J.-i., Okumura, A., Kumagai, T., Hirai, S., Nabetani, M., Saitoh, S., Hattori, A., Yamasaki, M., Kumakura, A., Sugo, Y., Nishiyama, K., Miyatake, S., Tsurusaki, Y., Doi, H., Miyake, N., Matsumoto, N. and Saitsu, H. Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly. Ann Neurol. 2013 Jan;73:48-57.
Takanashi J, Okamoto N, Yamamoto Y, Hayashi S, Arai H, Takahashi Y, Maruyama K, Mizuno S, Shimakawa S, Ono H, Oyanagi R, Kubo S, Barkovich AJ, Inazawa J. Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. Am J Med Genet A. 2012;158A:3112-8.
Shiohama T, Fujii K, Hayashi M, Hishiki T, Suyama M, Mizuochi H, Uchikawa H, Yoshida S, Yoshida H, Kohno Y. Phrenic nerve palsy associated with birth trauma - Case reports and a literature review. Brain Dev. 2013;35:363-6.
Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima N, Matsumoto N. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet. 2013;45:445-9
Kasai-Yoshida E, Kumada S, Yagishita A, Shimoda K, Sato-Shirai I, Hachiya Y, Kurihara E. First video report of static encephalopathy of childhood with neurodegeneration in adulthood. Mov Disord. 2013;28:397-9.
Shiihara T, Miyake T, Izumi S, Sugihara S, Watanabe M, Takanashi JI, Kubota M, Kato M. Serum and CSF biomarkers in acute pediatric neurological disorders. Brain Dev. doi: 10.1016/j.braindev.2013.06.011.[Epub ahead of print]
Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H. De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy. Am J Hum Genet. 2013;93:496-505.
Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H. (2013). De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Human Mutation, doi:10.1002/humu.22446
Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Hirose S. (2014). Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology. doi:10.1212/WNL.0000000000000102
Takanashi J, Taneichi H, Misaki T, Yahata Y, Okumura A, Ishida Y, Mizuguchi M. (2014). Clinical and radiologic features of encephalopathy during 2011 E coli O111 outbreak in Japan. Neurology, 1–9. doi:10.1212/WNL.0000000000000120
Watanabe S, Murayama A, Haginoya K, et al. (2012) Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. Brain Dev 34:151–5. doi: 10.1016/j.braindev.2011.03.010
Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi JI, 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 May 21. pii: 10.1212/WNL.0000000000000535.
http://www.ncbi.nlm.nih.gov/pubmed/24850488
Nakazawa M, Akasaka M, Hasegawa T, Suzuki T, Shima T, Takanashi JI, Yamamoto A, Ishidou Y, Kikuchi K, Niijima S, Shimizu T, Okumura A. Efficacy and safety of fosphenytoin for acute encephalopathy in children. Brain Dev. 2014 Jul 5. pii: S0387-7604(14)00157-0. doi: 10.1016/j.braindev.2014.06.009. [Epub ahead of print]
Okanishi T, Yamamoto H, Hosokawa T, Ando N, Nagayama Y, Hashimoto Y, Maihara T, Goto T, Kubota T, Kawaguchi C, Yoshida H, Sugiura K, Itomi S, Ohno K, Takanashi JI, Hayakawa M, Otsubo H, Okumura A. Diffusion-weighted MRI for early diagnosis of neonatal herpes simplex encephalitis. Brain Dev. 2014 Aug 19. pii: S0387-7604(14)00183-1. doi: 10.1016/j.braindev.2014.07.006. [Epub ahead of print]
Jun-ichi Takanashi, Takashi Shiihara, Takeshi Hasegawa, Masaru Takayanagi, Munetsugu Hara, Akihisa Okumura, Masashi Mizuguchi. Clinically Mild Encephalitis with a Reversible Splenial Lesion (MERS) after Mumps Vaccination. Journal of the Neurological Sciences
Sakuma H, Tanuma N, Kuki I, Takahashi Y, Shiomi M, Hayashi M. Intrathecal overproduction of proinflammatory cytokines and chemokines in febrile infection-related refractory status epilepticus. J Neurol Neurosurg Psychiatry 2014;0:14–7.
Extremely Severe Complicated Spastic Paraplegia 3A With Neonatal Onset. Yonekawa T, Oya Y, Higuchi Y, Hashiguchi A, Takashima H, Sugai K, Sasaki M. Pediatr Neurol. 2014 Nov;51(5):726-9. doi: 10.1016/j.pediatrneurol.2014.07.027. Epub 2014 Jul 24 PMID: 25193411
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet. 2015 Jan 29. PMID: 25631096
Moriyama, K., Watanabe, M., Yamada, Y., & Shiihara, T. (2015). Protein-losing enteropathy as a rare complication of the ketogenic diet: A case report. Pediatric Neurology doi:10.1016/j.pediatrneurol.2015.01.009
Nakazawa M, Akasaka M, Hasegawa T, Suzuki T, Shima T, Takanashi J, Yamamoto A, Ishidou Y, Kikuchi K, Niijima S, Shimizu T, Okumura A. Efficacy and safety of fosphenytoin for acute encephalopathy in children. Brain Dev. 2015 Apr;37(4):418-22. PMID: 25008803 doi: 10.1016/j.braindev.2014.06.009.
Kohrogi K, Imagawa E, Muto Y, Hirai K, Migita M, Mitsubuchi H, Miyake N, Matsumoto N, Nakamura K, Endo F. (2015). Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. Journal of Human Genetics, (March), 1–5. doi:10.1038/jhg.2015.35
Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N. Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann Neurol. 2015 May 27. doi: 10.1002/ana.24444.
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 Jul 3. doi: 10.1111/epi.13072.
Nakahara E, Sakuma H, Kimura-Kuroda J, Shimizu T, Okumura A, Hayashi M. A diagnostic approach for identifying anti-neuronal antibodies in children with suspected autoimmune encephalitis. J Neuroimmunol 2015; 285:150–5. doi:10.1016/j.jneuroim.2015.06.005.
Hiroko Tada, Jun-ichi Takanashi, Hideo Okuno, Masaya Kubota, Takanori Yamagata, Gou Kawano, Takashi Shiihara, Shin-ichiro Hamano, Shin-ichi Hirosei, Takuya Hayashi, Hitoshi Osaka, Masashi Mizuguchi. Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD). Journal of the Neurological Sciences doi:10.1016/j.jns.2015.08.016
Akiyama M, Akiyama T, Kanamaru K, Kuribayashi M, Tada H, Shiokawa T, Toda S, Imai K, Kobayashi Y, Tohyama J, Sakakibara T, Yoshinaga H, Kobayashi K. Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism. Clin Chim Acta. 2016 Jun 27;460:120-125.
Fukumura S, Ohba C, Watanabe T, Minagawa K, Shimura M, Murayama K, Ohtake A, Saitsu H, Matsumoto N, Tsutsumi H. Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. J Hum Genet. 2015;60:509-13.
底田 辰之, 竹内 義博, 高野 知行, 吉岡 誠一郎. Cyclosporinが奏効した慢性炎症性脱髄性多発ニューロパチーの小児例. 小児科臨床 (0021-518X)66巻9号 Page1905-1910(2013.09)
Kobayashi Y, Tohyama J, Akiyama T, Magara S, Kawashima H, Akasaka N, et al. Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency. Brain Dev 2017;39:266–70. doi:10.1016/j.braindev.2016.09.011.
Inui, T., Anzai, M., Takezawa, Y., Endo, W., Kakisaka, Y., Kikuchi, A., … Haginoya, K. (2017). A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. Journal of Human Genetics, 62(6), 653–655. https://doi.org/10.1038/jhg.2017.11
Inui, T., Iwama, K., Miyabayashi, T., Sato, R., Okubo, Y., Endo, W., … Haginoya, K. (2019). Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2. European Journal of Medical Genetics, 103769. https://doi.org/10.1016/j.ejmg.2019.103769
Ishiyama, A., Sakai, C., Matsushima, Y., Noguchi, S., Mitsuhashi, S., Endo, Y., … Nishino, I. (2017). IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurology. Genetics, 3(5), e184–e184. https://doi.org/10.1212/NXG.0000000000000184
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