著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI) Yu Kobayashi and Jun Tohyama and Noriyuki Akasaka and Kei Yamada and Moemi Hojo and Eijun Seki and Masaki Miura and Noriko Soma and Takeshi Ono and Mitsuhiro Kato and Mitsuko Nakashima and Hirotomo Saitsu and Naomichi Matsumoto,The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus,Human Genome Variation,2054-345X,Springer Science and Business Media LLC,2023-06-23,10,1,,https://cir.nii.ac.jp/crid/1360584340720337792,https://doi.org/10.1038/s41439-023-00247-8