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

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

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...

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Bibliographic Details
Main Authors: Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto, Tatsuo Matsunaga
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Pediatrics
Subjects:
SOX10
Waardenburg syndrome
Nonsense mutation
Delayed myelination
Seizure attack
Online Access:http://link.springer.com/article/10.1186/s12887-018-1139-2

Internet

http://link.springer.com/article/10.1186/s12887-018-1139-2

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