John Libbey Eurotext

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


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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


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.