Genetic Testing Requires NGS and Sanger Methodologies

Overview

Journal Pediatr Neurol Briefs

Specialty Neurology

Date 2016 Sep 22

PMID 27651130

Citations 1

Authors

Lawrence J Jennings

Dawn Kirschmann

Affiliations

Soon will be listed here.

Abstract

Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.

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References

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Djemie T, Weckhuysen S, von Spiczak S, Carvill G, Jaehn J, Anttonen A . Pitfalls in genetic testing: the story of missed SCN1A mutations. Mol Genet Genomic Med. 2016; 4(4):457-64. PMC: 4947864. DOI: 10.1002/mgg3.217. View