Hiroaki Hanafusa, Hiroshi Yamaguchi, Hidehito Kondo, Miwako Nagasaka, Ming Juan Ye, Shizuka Oikawa, Shoichi Tokumoto, Kazumi Tomioka, Masahiro Nishiyama, Naoya Morisada, et al. Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A. Brain & development. 2023. 45. 6. 317-323
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi, Hidehito Kondo, Erina Nakahara, Keiko Shimojima Yamamoto, Hitoshi Kanno, Yoshinori Katayama. Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up. The American journal of case reports. 2023. 24. e938396
花房 宏昭, 森貞 直哉, 長坂 美和子, 叶 明娟, 野口 裕子, 長野 智那, 野津 寛大, 粟野 宏之. MSL3領域のヌリソミーで生じたBasilicata-Akhtar症候群の日本人男児例(Basilicata-Akhtar syndrome derived from a nullisomy of the MSL3 region in a Japanese boy). 脳と発達. 2023. 55. 4. 279-282