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CRISPR-mediated <i>Stxbp1</i> gene activation ameliorates epileptic and aggressive phenotypes in <i>Stxbp1</i> -haploinsufficient mice

2026-06-09

Abstract excerpt

Mutations in the syntaxin-binding protein 1 ( STXBP1 ) gene, which encodes the presynaptic protein Munc18-1, cause a spectrum of severe epileptic encephalopathies and neurodevelopmental disorders, including Ohtahara syndrome, for which no curative treatment is currently available. Because the disease pathomechanism is thought to be driven by haploinsufficiency, restoring expression of the wild-type allele to phy...

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Literature Corpus work
742a3148-1491-598a-b7c7-cf77cd659893
DOI
10.64898/2026.06.08.730996
Open publication

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CRISPR-mediated <i>Stxbp1</i> gene activation ameliorates epileptic and aggressive phenotypes in <i>Stxbp1</i> -haploinsufficient miceDOI 10.64898/2026.06.08.730996
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