トクトミ　トモハル   Tomoharu Tokutomi   徳富　智明    所属   川崎医科大学  医学部 臨床医学　小児科学    職種   特任教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	GNAO1 mutation-related severe involuntary movements treated with gabapentin.
掲載誌名	正式名：Brain & development
掲載区分	国外
巻・号・頁	43(4),pp.576-579
著者・共著者	Manami Akasaka,Atsushi Kamei,Sachiko Tanifuji,Maya Asami,Jun Ito,Kanako Mizuma,Kotaro Oyama,Tomoharu Tokutomi,Kayono Yamamoto,Akimune Fukushima,Toshiki Takenouchi,Tomoko Uehara,Hisato Suzuki,Kenjiro Kosaki
発行年月	2021/04
概要	BACKGROUND: Mutations in GNAO1 typically result in neurodevelopmental disorders, including involuntary movements. They may be improved using calcium-channel modulators. CASE: The patient visited our hospital at age 2 years because of moderate global developmental delay. Her intermittent, generalized involuntary movements started at age 8 years. A de novo GNAO1 mutation, NM_020988.2:c.626G > A, (p.Arg209Cys), was identified by whole exome sequencing. At age 9 years, she experienced severe, intermittent involuntary movements, which led to rhabdomyolysis. She needed intensive care with administration of midazolam, dantrolene sodium hydrate, and plasma exchange. We started treating her with gabapentin (GBP), after which she recovered completely. At age 11 years, she developed continuous, generalized involuntary movements. This prompted us to increase the GBP dose, which again resolved the involuntary movements completely. CONCLUSION: In the case of movement disorders associated with GNAO1 mutations, GBP treatment may be attempted before more invasive procedures are performed.
DOI	10.1016/j.braindev.2020.12.002
PMID	33358199