福村 忍 ふくむら しのぶ 先生

来歴等

略歴

2002年 札幌医科大学医学部医学科 卒業
2002年 札幌医科大学病院 小児科および関連病院 研修
2010年 国立精神・神経医療研究センター 小児神経科 レジデント
2012年 北海道立子ども総合医療・療育センター 神経内科
2014年 札幌医科大学病院 小児科
2017年 札幌医科大学病院 小児科 助教
2020年 札幌医科大学病院 小児科 講師

論文

• 1. A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay. Brain Dev. 2021;44(2):178-183.

  Fukumura S, Hiraide T, Yamamoto A, Tsuchida K, Aoto K, Nakashima M, et al.

• 2. Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome. Neurology. 2021;97(2):92-4.

  Wakabayashi T, Fukumura S, Takahashi S, Kurosawa K, Miyamoto S, Tsuchida K, et al.

• 3. Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review. Child Neurol Open. 2021;8:2329048x211048613.

  Yamamoto A, Fukumura S, Habata Y, Miyamoto S, Nakashima M, Takashima S, et al.

• 4. Unrecovered synkinesis as a sequela of facial nerve palsy in Kawasaki disease. Pediatrics international : official journal of the Japan Pediatric Society. 2021.

  Adachi S, Ishida A, Saito M, Fujiwara K, Fukumura S.

• 5. Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study. Sci Rep. 2020;10(1):20585.

  Kawamura K, Fukumura S, Nikaido K, Tachi N, Kozuka N, Seino T, et al.

• 6. Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome. Journal of the neurological sciences. 2019;407:116521.

  Fukumura S, Yamauchi K, Kawanabe A, Yamamoto A, Nakaza M, Kubota T, et al.

• 7. Rapidly progressive fatal idiopathic hypertrophic pachymeningitis with brainstem involvement in a child. Childs Nerv Syst. 2018;34(9):1795-8.

  Tsuchida K, Fukumura S, Yamamoto A, Akiyama Y, Hirano H, Tsutsumi H.

• 8. Functional recovery after the systemic administration of mesenchymal stem cells in a rat model of neonatal hypoxia-ischemia. Journal of neurosurgery Pediatrics. 2018;22(5):513-22.

  Sakai T, Sasaki M, Kataoka-Sasaki Y, Oka S, Nakazaki M, Fukumura S, et al.

• 9. Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood. Brain Dev. 2018;40(8):678-84.

  Kato K, Mizuno S, Inaba M, Fukumura S, Kurahashi N, Maruyama K, et al.

• 10. Intravenous infusion of mesenchymal stem cells reduces epileptogenesis in a rat model of status epilepticus. Epilepsy Res. 2018;141:56-63.

  Fukumura S, Sasaki M, Kataoka-Sasaki Y, Oka S, Nakazaki M, Nagahama H, et al.

• 11. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC Med Genet. 2017;18(1):4.

  Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, et al.

• 12. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PLoS One. 2017;12(8):e0181791.

  Hayashi S, Uehara DT, Tanimoto K, Mizuno S, Chinen Y, Fukumura S, et al.

• 13. Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan. Eur J Neurol. 2017;24(10):1274-82.

  Ando M, Okamoto Y, Yoshimura A, Yuan JH, Hiramatsu Y, Higuchi Y, et al.

• 14. Short-term efficacy and safety of rufinamide for Lennox-Gastaut syndrome. No To Hattatsu. 2016;48(5):322-6.

  Takayama R, Fukumura S, Minagawa K, Watanabe T.

• 15. Subcortical heterotopia appearing as huge midline mass in the newborn brain. Childs Nerv Syst. 2016;32(2):377-80.

  Fukumura S, Watanabe T, Kimura S, Ochi S, Yoshifuji K, Tsutsumi H.

• 16. A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis. Child Neurol Open. 2016;3:2329048X16665758.

  Fukumura S, Kato M, Kawamura K, Tsuzuki A, Tsutsumi H.

• 17. Paroxysmal tonic upward gaze complicating Angelman syndrome. Pediatr Neurol. 2015;52(1):125-7.

  Fukumura S, Watanabe T, Takayama R, Tsutsumi H.

• 18. Everolimus Treatment for an Early Infantile Subependymal Giant Cell Astrocytoma With Tuberous Sclerosis Complex. J Child Neurol. 2015;30(9):1192-5.

  Fukumura S, Watanabe T, Takayama R, Minagawa K, Tsutsumi H.

• 19. Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. Journal of human genetics. 2015;60(9):509-13.

  Fukumura S, Ohba C, Watanabe T, Minagawa K, Shimura M, Murayama K, et al.

• 20. [Importance of measuring blood level of lamotrigine for optimum dosing schedule]. No To Hattatsu. 2014;46(5):345-9.

  Minagawa K, Watanabe T, Oyanagi R, Fukumura S.

• 21. Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells. Gene. 2012;497(1):110-5.

  Yamada M, Okura Y, Suzuki Y, Fukumura S, Miyazaki T, Ikeda H, et al.

• 22. [Effect of neurotropin on chronic headaches in children]. No To Hattatsu. 2012;44(6):477-81.

  Saito Y, Fukumura S, Saito T, Komaki H, Nakagawa E, Sugai K, et al.

• 23. Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2012;54(7):663-6.

  Fukumura S, Saito Y, Saito T, Komaki H, Nakagawa E, Sugai K, et al.

• 24. A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease. Brain Dev. 2011;33(8):697-9.

  Fukumura S, Adachi N, Nagao M, Tsutsumi H.

著書

• 1. すべてわかるこどものてんかん（改訂版）; 日本てんかん協会編.　 （皆川公夫 監修/クリエイツかもがわ/2018）

受賞

• 1. 2018年6月 優秀English Session賞 第60回日本小児神経学会学術集会

• 2. 2016年3月 第1回優秀論文賞 日本小児神経学会北海道地方会

• 3. 2012年3月 第4回奨励賞 日本小児神経学会北海道地方会