A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

• 主要な著者: Noriomi Suzuki (著者), Hideki Mutai (著者), Fuyuki Miya (著者), Tatsuhiko Tsunoda (著者), Hiroshi Terashima (著者), Noriko Morimoto (著者), Tatsuo Matsunaga (著者)
• フォーマット: 図書
• 出版事項: BMC, 2018-05-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2. Case presentation This report describes a patient...