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

• Main Authors: Noriomi Suzuki (Author), Hideki Mutai (Author), Fuyuki Miya (Author), Tatsuhiko Tsunoda (Author), Hiroshi Terashima (Author), Noriko Morimoto (Author), Tatsuo Matsunaga (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: 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...