Folinic Acid Responsive Epilepsy in Ohtahara Syndrome

• 出版年: Pediatric Neurology Briefs
• 主要な著者: J Gordon Millichap, John J Millichap
• フォーマット: 論文
• 言語: 英語
• 出版事項: Pediatric Neurology Briefs Publishers 2014-03-01
• 主題: stxbp1 mutations; folinic acid; hong kong patient’s seizures
• オンライン･アクセス: https://www.pediatricneurologybriefs.com/articles/186
• ISSN: 1043-3155; 2166-6482

Investigators at Queen Mary Hospital, Hong Kong, report a case of Ohtahara syndrome with transient folinic acid responsiveness but without evidence of antiquitin dysfunction in a girl later found to have a known STXBP1 mutation.