Dissemin is shutting down on January 1st, 2025

Published in

Wiley Open Access, Molecular Genetics and Genomic Medicine, 4(4), p. 457-464, 2016

DOI: 10.1002/mgg3.217

Links

Tools

Export citation

Search in Google Scholar

Pitfalls in genetic testing: the story of missed SCN1A mutations

Journal article published in 2016 by Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, Carolien G. de Kovel, Carla Marini, Jacinta M. McMahon, Davide Mei, Rikke S. Møller, Hiltrud Muhle, Candace T. Myers, Caroline Nava, Jose M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano and other authors.
This paper is available in a repository.
This paper is available in a repository.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Green circle
Postprint: archiving allowed
Upload
Green circle
Published version: archiving allowed
Upload
Policy details
Data provided by SHERPA/RoMEO

Abstract

Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations.