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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

Crossref DOI link: https://doi.org/10.1186/s12887-018-1139-2

Published Online: 2018-05-23

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Suzuki, Noriomi

Mutai, Hideki

Miya, Fuyuki

Tsunoda, Tatsuhiko

Terashima, Hiroshi

Morimoto, Noriko

Matsunaga, Tatsuo
Funding

Funding for this research was provided by:

Grant-in0Aid for Clinical Research from National Hospital Organization (H27-NHO (kankaku)-02)

Health Labour Sciences Research Grant (H26-Nanchito(Nan)-Ippan-035)
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Article History

Received: 13 June 2017

Accepted: 2 May 2018

First Online: 23 May 2018

Ethics approval and consent to participate

: This study was approved by ethical committees of National Center for Child Health and Development, National Hospital Organization Tokyo Medical Center, Tokyo Medical and Dental University, and RIKEN Center for Integrative Medical Sciences. All the procedures were conducted after obtaining a written informed consent from the parents of the child. The other members of the family were not subjected for genetic analysis, therefore informed consent forms were not obtained.

: All authors, participants and parents agreed the publication of data presented in this manuscript. Written informed consent was obtained from the parents of the child to publish this case report and any accompanying images.

: The authors declare that they have no competing interests.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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