Article
X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder.
Neurobiology of disease - 1 Jan 2021
Terzic Barbara, Cui Yue, Edmondson Andrew C, Tang Sheng, Sarmiento Nicolas, Zaitseva Daria, Marsh Eric D, Coulter Douglas A, Zhou Zhaolan
Abstract excerpt
CDKL5 deficiency disorder (CDD) is an infantile, epileptic encephalopathy presenting with early-onset seizures, intellectual disability, motor impairment, and autistic features. The disorder has been linked to mutations in the X-linked CDKL5, and mouse models of the disease recapitulate several aspects of CDD symptomology, including learning and memory impairments, motor deficits, and autistic-like features....
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