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Barbara Terzic on Muck Rack

Barbara Terzic

As seen in: Cell Reports Medicine
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Independent genetic strategies define the scope and limits of CDKL5 deficiency disorder reversal

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By Xie Song, Zijie Xia, Bing Xu, Yanjie Zhang, Erin Nugent, Zhaolan Zhou, Dayne Martinez, Zachary Spritzer, Yugong Ho, Barbara Terzic
| Cell Reports Medicine Verified
Keywords CDKL5 deficiency disorder CDD genetic reversal behavioral phenotype learning and memory epilepsy mouse model clinical trial design Introduction Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental encephalopathy caused by mutations in the X-linked gene encoding CDKL5,1,2,3,4 a serine-threonine kinase highly expressed in neurons, especially the forebrain.5,6,7 Early-onset, refractory seizures are a prominent feature of CDD, making it one of the most...
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