Article Text

Download PDFPDF
A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • NHA and ZY contributed equally.

  • Contributors NHA and ZY: substantially contributed to design of the manuscript. NHA, ZY and ANB gave final approval of manuscript. All authors: contributed to analysis and interpretation of data and critically revised manuscript for the content of the study.

  • Funding Suna and İnan Kıraç Foundation.

  • Competing interests None declared.

  • Patient consent Guardian consent obtained.

  • Ethics approval Ethical approval for this study has been obtained from the Local Ethics Committee of Istanbul University.

  • Provenance and peer review Not commissioned; externally peer reviewed.