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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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Literature Corpus work
af781faf-09b6-5509-8bfc-d625f4c9214c
DOI
10.1101/2025.10.15.25337897
Open publication

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High incidence of Y-chromosome mosaicism in male and female individuals with MOGHEDOI 10.1101/2025.10.15.25337897
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