Article
High incidence of Y-chromosome mosaicism in male and female individuals with MOGHE
2025-10-19
Abstract excerpt
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a recently discovered histopathological lesion entity. Approximately half of affected individuals carry a pathogenic brain mosaicism in the X-linked SLC35A2 gene, and all suffer from epilepsy. In this work, we extended the search for genetic alterations of MOGHE by investigating sex chromosome copy number alteration...
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Identifiers and source
- Literature Corpus work
- af781faf-09b6-5509-8bfc-d625f4c9214c
- DOI
- 10.1101/2025.10.15.25337897
