診療研究グループ紹介

神経グループ

神経グループは高橋 悟(講師)、鈴木菜生(医員)、田中亮介(医員)、竹口 諒(医員)、黒田真実(医員)の5名で構成されております。診療面ではてんかん、脳性麻痺、変性疾患、筋疾患などの診療に加え、小児科外来に併設されている「子どもの発達診療センター」では、岡山助教、鈴木医師が中心となって自閉スペクトラム症、ADHD、学習障害などの発達障害の診療にあたっております。また、当グループは地域と連携した診療を重視し、関連病院や発達支援センターでの神経専門外来や相談業務も担当しております。研究面では、高橋講師が中心となりレット症候群などの神経発達障害やてんかんの病態解明・治療法開発を目指し、分子生物学的手法を用いながら活発に研究を行っています。

スタッフ

氏名 役職 専門医/資格
高橋  悟 講師 日本小児科学会専門医/指導医
日本小児神経学会専門医/指導責任医
てんかん専門医/指導医
鈴木 菜生 医員 日本小児科学会専門医/指導医
日本小児神経学会専門医
田中 亮介 助教 日本小児科学会専門医/指導医
竹口 諒 医員 日本小児科学会専門医
黒田 真実 医員 日本小児科学会専門医
新生児蘇生法(NCPR)インストラクター

研究テーマ

脳形成異常の病態解明-前脳特異的Cdk5欠損マウスをモデルとして
レット症候群、MECP2重複症候群の臨床遺伝学的研究
GLUT1欠損症の診断と病態解明
てんかん・神経発達障害の分子遺伝学的研究
脳浮腫の分子機構の解明・治療法開発

取得した専門医研修施設

日本小児神経学会小児神経科専門医研修認定施設

業績

  • Takeguchi R, Haginoya K, Uchiyama Y, Fujita A, Nagura M, Takeshita E, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M. Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. Brain Dev 2018 (in press)
  • Shioda T, Takahashi S, Kaname T, Yamauchi T, Fukuoka T. MECP2 mutation in a boy with severe apnea and sick sinus syndrome. Brain Dev 2018 (in press), doi: 10.1016/j.braindev.2018.03.008
  • Harada K, Yamamoto M, Konishi Y, Koyano K, Takahashi S, Namba M, Kusaka T. Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation. Brain Dev 40: 49-52, 2018. doi: 10.1016/j.braindev.2017.07.007.
  • Takahashi S, Matsufuji M, Yonee C, Tsuru H, Sano N, Oguni H. Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome. Clin Genet 91: 932-934, 2017. doi: 10.1111/cge.12902
  • Tanaka R, Takahashi S, Okano S, Okayama A, Suzuki N, Kure S, Azuma H. Evolution into moyamoya disease in an infant with internal carotid artery aneurysms. eNeurologicalSci 6: 80-82, 2017. doi: 10.1016/j.ensci.2017.01.002.
  • Okano S, Tanaka R, Okayama A, Tsuchida E, Nohara F, Suzuki N, Okamoto T, Nagaya K, Takahashi S, Azuma H. Congenital basal meningoceles with different outcomes: a case series. J Med Case Rep 11: 359, 2017. doi: 10.1186/s13256-017-1497-7.
  • Imamichi Y, Sekiguchi T, Kitano T, Kajitani T, Okada R, Inaoka Y, Miyamoto K, Uwada J, Takahashi S, Nemoto T, Mano A, Khan MRI, Islam MT, Yuhki KI, Kashiwagi H, Ushikubi F, Suzuki N, Taniguchi T, Yazawa T. Diethylstilbestrol administration 1 inhibits theca cell androgen and granulosa cell estrogen production in immature rat ovary. Sci Rep 7: 8374, 2017. doi: 10.1038/s41598-017-08780-7.
  • Tanaka R, Takahashi S, Okano S, Okayama A, Suzuki N, Kure S, Azuma H: Evolution into moyamoya disease in an infant with internal carotid artery aneurysms. eNeurologicalSci 6: 80-2, 2017
  • Takahashi S, Matsufuji M, Yonee C, Tsuru H, Sano N, Oguni H: Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome. Clin Genet 2017 Jun;91(6):932-933.doi 10.1111/cge.12902.
  • Fujii T, Ito Y, Takahashi S, Shimono K, Natsume J, Yanagihara K, Oguni H: Outcome of ketogen1c diet for GLUT1 deficiency syndrome in Japan.: nationwide survey, Brain Dev 38: 628-37, 2016
  • Okano S, Sugimoto M, Takase M, Iseki K, Kajihama A, Azuma H: Effectiveness of high dose spironolactone therapy in a patient with recurrent protein-losing enteropathy after Fontan procedure: Intern Med 55: 1611-4, 2016
  • Takahashi S, Tanaka R, Okano S, Okayama A, Suzuki N, Azuma H: Reduced efficacy of enzyme replacement therapy in a child with late-onset Pompe disease, Pediatr Therapeut 6: 290, 2016
  • Takahashi S, Yamamoto S, Okayama A, Araki A, Saitsu H, Matsumoto N, Azuma H: Electroclinical features of epileptic encephalopathy caused by SCN8A mutation. Pediatr Int 57(4): 758-762, 2015.
  • Takahashi S, Yamamoto S, Tanaka R, Okayama A, Araki A, Azuma H: Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures. Epilepsy Behavior Case Reports 4: 35-37, 2015.
  • Takahashi S, Tanaka R, Okano S, Suzuki N, Okayama A, Azuma H: Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence. Mol Cytogenet 8:84, 2015.
  • Yamamoto S, Takahashi S, Tanaka R, Okayama A, Araki A, Katano H, Tanaka-Taya K, Azuma H: Human herpesvirus-6 infection-associated acute encephalopathy without skin rash. Brain Dev 37: 829-832, 2015.
  • Okano S, Takase M, Iseki K, Toriumi N, Kaneda M, Kunishima S: Genotype-Phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder. J Pediatr Hematol Oncol 37(6): e352-355, 2015. 1
  • Ito Y, Takahashi S, Shimono K, Natsume J, Yanagihara K, Fujii T, Oguni H. Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. Brain Dev 37: 780-789, 2015
  • Araki A, Ikegami M, Okayama A, Matsumoto N, Takahashi S, Azuma H, Takahashi M: Improved prefrontal activity in ADHD children treated with atomoxetine: a NIRS study. Brain Dev 37:76-87, 2015
  • Yamanaka Y, Hashimoto S, Takasu NN, Tanahashi Y, Nishide SY, Honma S, Honma K. Morning and evening physical exercise differentially regulate the autonomic nervous system during nocturnal sleep in humans. Am J Physiol Regul Integr Comp Physiol. 2015 309(9): R1112-21
  • Kumakura A, Takahashi S, Okajima K, Hata D: A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome. Brain Dev. 36(8): 725-729, 2014.
  • Hara M, Nishi Y, Yamashita Y, Hirata R, Takahashi S, Nagamitsu S, Hosoda H, Kangawa K, Kojima M, Matsuishi, T: Relation between circulating levels of GH, IGF-1, ghrelin and somatic growth in Rett Syndrome. Brain Dev. 36(9): 794-800, 2014.
  • Utreras E, Hamada R, Prochazkova M, Terse A, Takahashi S, Ohshima T, Kulkarni AB: Suppression of neuroinflammation in forebrain-specific Cdk5 conditional knockout mice by PPAR-gamma agonist improves neuronal loss and early lethality. J Neuroinflammation. 5(11): 28, 2014.
  • Matsumoto N, Takahashi S, Okayama A, Araki A, Azuma H: Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series. J Med Case Reports. 1(8) :174, 2014.
  • Ohba C, Kato M, Takahashi S, Terashima H, Kubota M, Matsufuji M, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Goldberg-Stern H, Straussberg R, Marom D, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H: Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 55(7): 994-1000, 2014.
  • Takahashi S, Yamamoto S, Tanaka R, Okayama A, Araki A, Kajino H, Azuma H: A novel mutation of the SCN4A gene in a Japanese family with paramyotonia congenita. J Neurol Neurophysiol 5: 233, 2014.
  • Oka H, Suzuki S, Furuya A, Matsuo K, Amamiya S, Oshima M, Oka T, Mukai T, Okayama A, Araki A, Azuma H, Tanahashi Y: Glycemic control and motor development in a patient with intermediate DEND. Pediatr Int 56: 432-435, 2014. Asai H, Okamoto T, Tsuchida E, Nohara F, Nagaya K, Azuma H: Thrombosed dural sinus malformation in a fetus: a case report, J Neuroimaging. 24(6): 603-6, 2014.
  • Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama K, 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: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol. 73: 48-57, 2013.
  • Shiohama T, Fujii K, Takahashi S, Nakamura F, Kohno Y: Reversible t2 prolongations appear in the energy deprivation period in glucose transporter 1 deficiency syndrome. Pediatr Neurol. 49: 493-496, 2013.
  • Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama K, 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: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol 73: 48-57, 2013
  • Kitamura Y, Okumura A, Hayashi M, Mori H, Takahashi S, Yanagihara K, Miyata R, Tanuma N, Mimaki T, Abe S, Shimizu T: Oxidative stress markers and phosphorus magnetic resonance spectroscopy in a patient with GLUT1 deficiency treated with modified Atkins diet. Brain Dev 34: 372-375, 2012
  • Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A: FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome. Clin Genet 82: 569-573, 2012
  • Kitamura Y, Okumura A, Hayashi M, Mori H, Takahashi S, Yanagihara K, Miyata R, Tanuma N, Mimaki T, Abe S, Shimizu T: Oxidative stress markers and phosphorus magnetic resonance spectroscopy in a patient with GLUT1 deficiency treated with modified Atkins diet. Brain Dev 34: 372-375, 2012
  • Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, et al. FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome. Clin Genet. 2012;82(6):569-73.
  • He X, Takahashi S, Suzuki H, Hashikawa T, Kulkarni AB, Mikoshiba K, Ohshima T: Hypomyelination phenotype caused by impaired differentiation of oligodendrocytes in Emx1-cre mediated Cdk5 conditional knockout mice. Neurochem Res 36: 1293-1303, 2011
  • Tachi N, Takahashi S, Jo M, Shinoda M: A new mutation of GCH1 in triplets family with dopa-responsive dystonia. Eur J Neurol 18: 1191-1193, 2011
  • Hara M, Nishi Y, Yamashita Y, Yoh J, Takahashi S, Nagamitsu SI, Kakuma T, Hosoda H, Kangawa K, Kojima M, Matsuishi T: Ghrelin levels are reduced in Rett syndrome patients with eating difficulties. Int J Dev Neurosci 29: 899-902, 2011
 

旭川医科大学小児科学教室

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Department of Pediatrics, Asahikawa Medical University

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