Article

Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties

2023-06-15

Abstract excerpt

<h4>ABSTRACT</h4> Pathogenic variants in the GNAO1 gene, encoding the alpha subunit of an inhibitory heterotrimeric guanine nucleotide-binding protein (Go) highly expressed in the mammalian brain, have been linked to encephalopathy characterized by different combinations of neurological symptoms, including developmental delay, hypotonia, epilepsy and hyperkinetic movement disorder with life-threatening paroxysma...

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Literature Corpus work: a1984690-fe07-53cc-8563-bbd1a414e607
DOI: 10.1101/2023.06.15.545051

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