In this presentation Dr. Katie Miller discusses the finding of the study conducted at Nationwide Children’s Hospital that pre-zygotic aneuploidy followed by post-zygotic partial reversion leads to a recurrent form of brain mosaicism-related epilepsy. Genomic analysis showed evidence of an extra, parentally-derived chromosome 1q in five of six patient brain tissues, which was not present in blood or buccal tissue – as evidenced by high-depth targeted sequencing of residual DNA using ClaretBio’s SRSLY