Beschreibung:
<jats:title>Abstract</jats:title><jats:p>Mutations in the actively expressed, maternal allele of the imprinted <jats:italic>KCNK9</jats:italic> gene cause Birk-Barel intellectual disability syndrome (BBIDS). Using a BBIDS mouse model, we identify here a partial rescue of the BBIDS-like behavioral and neuronal phenotypes mediated via residual expression from the paternal <jats:italic>Kcnk9</jats:italic> (<jats:italic>Kcnk9</jats:italic><jats:sup>pat</jats:sup>) allele. We further demonstrate that the second-generation HDAC inhibitor CI-994 induces enhanced expression from the paternally silenced <jats:italic>Kcnk9</jats:italic> allele and leads to a full rescue of the behavioral phenotype suggesting CI-994 as a promising molecule for BBIDS therapy. Thus, these findings suggest a potential approach to improve cognitive dysfunction in a mouse model of an imprinting disorder.</jats:p>