A case report of  ATP6V1A gene abnormality with ataxia, headache and seizures worsened by exercise

柳原恵子 (Keiko Yanagihara)

Presentation information

Oral Presentation

Genetics / Genetic abnormality

[O16] Genetics / Genetic abnormality 1

Fri. May 31, 2019 3:30 PM - 4:30 PM Room 9 (Conference Room 133+134, 3F, Bldg. 1)

Chair: Tomonari Awaya (Department of Anatomy and Developmental Biology, Kyoto University, Graduate School of Medicine), Nobuhiko Okamoto (Osaka Women's and Children's Hospital)

[O-095] A case report of ATP6V1A gene abnormality with ataxia, headache and seizures worsened by exercise

柳原恵子 (Keiko Yanagihara)¹, 岡本伸彦², 平野翔堂¹, 中島健¹, 大星大観¹, 木水友一¹, 池田妙¹, 最上友紀子¹, 鈴木保宏¹, 加藤光広³, 才津浩智⁴, 松本直通⁵ (1.大阪母子医療センター小児神経科, 2.大阪母子医療センター遺伝診療科, 3.昭和大学医学部小児科, 4.浜松医科大学医科学講座, 5.横浜市立大学医学系研究科遺伝学)

Abstract password authentication.
Password is required to view the abstract. Please enter a password to authenticate.