Molecular and Synaptic Bases of CDKL5 Disorder

• Published in: Developmental neurobiology (Hoboken, N.J.) Vol. 79; no. 1; pp. 8 - 19
• Main Authors: Zhu, Yong‐Chuan, Xiong, Zhi‐Qi
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.01.2019
• Subjects: Animal models; Animals; CDKL5; dendritic spine; Encephalopathy; Epilepsy; Epileptic Syndromes - genetics; Epileptic Syndromes - pathology; Humans; intellectual disability; kinase; Morphogenesis; Neurodevelopmental disorders; Phenotypes; Protein-Serine-Threonine Kinases - genetics; Protein-serine/threonine kinase; Rett syndrome; Rodents; Spasms, Infantile - genetics; Spasms, Infantile - pathology; Synapses; Synapses - pathology; Synaptogenesis; kinase; dendritic spine; CDKL5; intellectual disability; Rett syndrome

The X‐linked gene cyclin‐dependent kinase‐like 5 (CDKL5) encodes a serine/threonine kinase abundantly expressed in the brain. Mutations in CDKL5 have been associated with neurodevelopmental disorders characterized by early‐onset epileptic encephalopathy and severe intellectual disability, suggesting...