研究者業績

森 墾

モリ ハルシ  (Harushi MORI)

基本情報

所属
自治医科大学 医学部 放射線医学講座 教授
学位
博士(医学)(東京大学)

J-GLOBAL ID
200901045348273070
researchmap会員ID
1000367575

研究キーワード

 2

経歴

 5

論文

 197
  • Akihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, Hiroyuki Ishiura, Jun Mitsui, Hiroaki Harada, Keishi Fujio, Jun Fujishiro, Harushi Mori, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
    Internal medicine (Tokyo, Japan) 2024年8月1日  
    We herein report a novel de novo KCNH5 variant in a patient with refractory epileptic encephalopathy. The patient exhibited seizures at 1 year and 7 months old, which gradually worsened, leading to a bedridden status. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and cerebellar hypoplasia. A trio whole-exome sequence analysis identified a de novo heterozygous c.640A>C, p.Lys214Gln variant in KCNH5 that was predicted to be deleterious. Recent studies have linked KCNH5 to various epileptic encephalopathies, with many patients showing normal MRI findings. The present case expands the clinical spectrum of the disease, as it is characterized by severe neurological prognosis, cerebral atrophy, and cerebellar hypoplasia.
  • Akihiro Nakamata, Mitsuru Matsuki, Yuriko Watanabe, Ryoma Kobayashi, Nana Fujii, Naoki Kunitomo, Yuko Otake, Hiroyuki Fujii, Kohei Hamamoto, Harushi Mori
    RadioGraphics 44(7) 2024年7月1日  
  • Yuriko Watanabe, Mitsuru Matsuki, Akihiro Nakamata, Sota Masuoka, Tomohiro Kikuchi, Hiroyuki Fujii, Kohei Hamamoto, Harushi Mori, Noriyoshi Fukushima, Mio Sakaguchi, Sho Todo, Hiroyuki Fujiwara
    Abdominal Radiology 2024年6月11日  
  • Kenta Ochiai, Takashi Ohashi, Harushi Mori, Hirotomo Saitsu, Jun-Ichi Takanashi
    Cureus 16(6) e61716 2024年6月  
    In this article, we report the third case of chloride voltage-gated channel 2 (CLCN2)-related leukoencephalopathy (CC2L) in Japan. The patient presented with headache, vertigo, and mild visual impairment. The CLCN2 variant of the patient, NM_004366.6:c.61dup, p.(Leu21Profs*27), was also found in two other Japanese patients as this variant is relatively common in the Japanese population. Magnetic resonance imaging (MRI) revealed T2 prolongation with reduced diffusion in the bilateral posterior limbs of the internal capsule, cerebral peduncles, and superior and middle cerebellar peduncles. Magnetic resonance spectroscopy (MRS) of normal-appearing white matter revealed decreased choline content. This represents the first evidence of decreased choline levels in CC2L, highlighting the superior sensitivity of MRS over MRI.
  • Tomohiro Kikuchi, Takahiro Nakao, Yuta Nakamura, Shouhei Hanaoka, Harushi Mori, Takeharu Yoshikawa
    American Journal of Neuroradiology ajnr.A8332-ajnr.A8332 2024年5月7日  

MISC

 129

書籍等出版物

 56

講演・口頭発表等

 84

共同研究・競争的資金等の研究課題

 3