John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Sensitive quantitative detection of somatic mosaic mutation in “double cortex” syndrome Volume 19, numéro 4, December 2017

Illustrations

  • Figure 1
  • Figure 2
Auteurs
1 Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC
2 Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, VIC
3 School of Cancer Medicine, La Trobe University, Bundoora, VIC
4 Department of Pathology, University of Melbourne, Parkville, VIC
5 Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville, VIC
6 Anatomical Pathology, Austin Health, Heidelberg, VIC, 3084, Australia
* Correspondence: Michael S. Hildebrand Epilepsy Research Centre, University of Melbourne, 245 Burgundy St. Heidelberg, Victoria 3084, Australia
a These authors contributed equally
  • Mots-clés : LIS1 gene, somatic mosaic mutation, subcortical band heterotopia, Double Cortex
  • DOI : 10.1684/epd.2017.0944
  • Page(s) : 450-5
  • Année de parution : 2017

Aims

Somatic mutation of the lissencephaly-1gene is a cause of subcortical band heterotopia (“double cortex”). The severity of the phenotype depends on the level of mutation in brain tissue. Detecting and quantifying low-level somatic mosaic mutations is challenging. Here, we utilized droplet digital PCR, a sensitive method to detect low-level mutation.