1. A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Issue 8 (23rd June 2019) Authors: Miyamoto, Sachiko; Nakashima, Mitsuko; Ohashi, Tsukasa; Hiraide, Takuya; Kurosawa, Kenji; Yamamoto, Toshiyuki; Takanashi, Junichi; Osaka, Hitoshi; Inoue, Ken; Miyazaki, Takehiro; Wada, Yoshinao; Okamoto, Nobuhiko; Saitsu, Hirotomo Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 8(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation. Issue 2 (June 2014) Authors: Ohashi, Tsukasa; Akasaka, Noriyuki; Kobayashi, Yu; Magara, Shinichi; Kawashima, Hideshi; Matsumoto, Naomichi; Saitsu, Hirotomo; Tohyama, Jun Journal: Epileptic disorders Issue: Volume 16:Issue 2(2014:Jun.) Page Start: 208 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗