1. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. Issue 1 (December 2016) Authors: Kanemasa, Hikaru; Fukai, Ryoko; Sakai, Yasunari; Torio, Michiko; Miyake, Noriko; Lee, Sooyoung; Ono, Hiroaki; Akamine, Satoshi; Nishiyama, Kei; Sanefuji, Masafumi; Ishizaki, Yoshito; Torisu, Hiroyuki; Saitsu, Hirotomo; Matsumoto, Naomichi; Hara, Toshiro Journal: BMC neurology Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy. (July 2016) Authors: Sakai, Yasunari; Fukai, Ryoko; Matsushita, Yuki; Miyake, Noriko; Saitsu, Hirotomo; Akamine, Satoshi; Torio, Michiko; Sasazuki, Momoko; Ishizaki, Yoshito; Sanefuji, Masafumi; Torisu, Hiroyuki; Shaw, Chad A; Matsumoto, Naomichi; Hara, Toshiro Journal: Annals of human genetics Issue: Volume 80:Number 4(2016:Jul.) Page Start: 235 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Decision-making dilemmas of paediatricians: a qualitative study in Japan. Issue 8 (19th August 2019) Authors: Sasazuki, Momoko; Sakai, Yasunari; Kira, Ryutaro; Toda, Naoko; Ichimiya, Yuko; Akamine, Satoshi; Torio, Michiko; Ishizaki, Yoshito; Sanefuji, Masafumi; Narama, Miho; Itai, Koichiro; Hara, Toshiro; Takada, Hidetoshi; Kizawa, Yoshiyuki; Ohga, Shouichi Journal: BMJ open Issue: Volume 9:Issue 8(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases. (January 2019) Authors: Yonemoto, Kousuke; Ichimiya, Yuko; Sanefuji, Masafumi; Kaku, Noriyuki; Sakata, Ayumi; Baba, Rieko; Yamashita, Fumiya; Akamine, Satoshi; Torio, Michiko; Ishizaki, Yoshito; Maehara, Yoshihiko; Sakai, Yasunari; Ohga, Shouichi Journal: Clinical EEG and neuroscience Issue: Volume 50:Number 1(2019) Page Start: 51 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2. Issue 1 (23rd November 2017) Authors: Akamine, Satoshi; Sagata, Noriaki; Sakai, Yasunari; Kato, Takahiro A.; Nakahara, Takeshi; Matsushita, Yuki; Togao, Osamu; Hiwatashi, Akio; Sanefuji, Masafumi; Ishizaki, Yoshito; Torisu, Hiroyuki; Saitsu, Hirotomo; Matsumoto, Naomichi; Hara, Toshiro; Sawa, Akira; Kano, Shinichi; Furue, Masutaka; K... Journal: Epilepsia open Issue: Volume 3:Issue 1(2018) Page Start: 81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0. Issue 5 (3rd October 2019) Authors: Maeda, Kenichi; Chong, Pin Fee; Yamashita, Fumiya; Akamine, Satoshi; Kawakami, Saori; Saito, Kayoko; Takahata, Yasushi; Kira, Ryutaro Journal: Annals of neurology Issue: Volume 86:Issue 5(2019) Page Start: 801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons. Issue 12 (27th October 2020) Authors: Akamine, Satoshi; Okuzono, Sayaka; Yamamoto, Hiroyuki; Setoyama, Daiki; Sagata, Noriaki; Ohgidani, Masahiro; Kato, Takahiro A.; Ishitani, Tohru; Kato, Hiroki; Masuda, Keiji; Matsushita, Yuki; Ono, Hiroaki; Ishizaki, Yoshito; Sanefuji, Masafumi; Saitsu, Hirotomo; Matsumoto, Naomichi; Kang, Dongcho... Journal: FASEB journal Issue: Volume 34:Issue 12(2020) Page Start: 16601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Infantile spasms and early-onset progressive polycystic renal lesions associated with TSC2/PKD1 contiguous gene deletion syndrome. (March 2021) Authors: Matsubara, Yoshie; Akamine, Satoshi; Chong, Pin Fee; Kawakami, Saori; Maehara, Kenji; Kaku, Yoshitsugu; Kurokawa, Mari; Morisada, Naoya; Iijima, Kazumoto; Kira, Ryutaro Journal: Seizure Issue: Volume 86(2021) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy. (October 2016) Authors: Isobe, Natsumi; Sakai, Yasunari; Kira, Ryutaro; Sanefuji, Masafumi; Ishizaki, Yoshito; Sakata, Ayumi; Sasazuki, Momoko; Torio, Michiko; Akamine, Satoshi; Torisu, Hiroyuki; Hara, Toshiro Journal: Clinical EEG and neuroscience Issue: Volume 47:Number 4(2016:Oct.) Page Start: 317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗