Article

Transcriptomic disruption and functional hypoactivity in DYT- <i>SGCE</i> MGE-patterned inhibitory neurons

2024-12-21

Abstract excerpt

Myoclonus Dystonia is a dystonic movement disorder caused by SGCE mutations, the underlying pathophysiology for which remains unclear. Here, we evaluated the impact of SGCE mutations on medial ganglionic eminence (MGE)-derived GABAergic neurons using patient-derived induced pluripotent and gene edited embryonic stem cell lines, each compared to their isogenic wild-type control. No significant differences were ob...

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Literature Corpus work: 6d2e128c-751e-513b-b165-6a8e24f33c98
DOI: 10.1101/2024.12.19.629430

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