How does SLC35A2 brain mosaicism in humans compare to complete conditional knockout effects in mice?

translational neuroscience open
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Description

The mouse models use complete conditional knockout in specific lineages, while human MOGHE involves somatic mosaicism with mixed populations of normal and mutant cells. This difference may limit translational relevance and requires investigation of how mosaic patterns influence phenotype severity.

Gap type: open_question Source paper: Mouse models of Slc35a2 brain mosaicism reveal mechanisms of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy. (2024, Epilepsia, PMID:39460689)

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