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What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy
Joint Authors
Kilstrup-Nielsen, Charlotte
Rusconi, Laura
La Montanara, Paolo
Ciceri, Dalila
Bergo, Anna
Bedogni, Francesco
Landsberger, Nicoletta
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-05-23
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of life, severe developmental delay, profound hypotonia, and often the presence of some Rett-syndrome-like features.
The association of CDKL5 with neurodevelopmental disorders and its high expression levels in the maturing brain underscore the importance of this kinase for proper brain development.
However, our present knowledge of CDKL5 functions is still rather limited.
The picture that emerges from the molecular and cellular studies suggests that CDKL5 functions are important for regulating both neuronal morphology through cytoplasmic signaling pathways and activity-dependent gene expression in the nuclear compartment.
This paper surveys the current state of CDKL5 research with emphasis on the clinical symptoms associated with mutations in CDKL5, the different mechanisms regulating its functions, and the connected molecular pathways.
Finally, based on the available data we speculate that CDKL5 might play a role in neuronal plasticity and we adduce and discuss some possible arguments supporting this hypothesis.
American Psychological Association (APA)
Kilstrup-Nielsen, Charlotte& Rusconi, Laura& La Montanara, Paolo& Ciceri, Dalila& Bergo, Anna& Bedogni, Francesco…[et al.]. 2012. What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy. Neural Plasticity،Vol. 2012, no. 2012, pp.1-11.
https://search.emarefa.net/detail/BIM-1002453
Modern Language Association (MLA)
Kilstrup-Nielsen, Charlotte…[et al.]. What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy. Neural Plasticity No. 2012 (2012), pp.1-11.
https://search.emarefa.net/detail/BIM-1002453
American Medical Association (AMA)
Kilstrup-Nielsen, Charlotte& Rusconi, Laura& La Montanara, Paolo& Ciceri, Dalila& Bergo, Anna& Bedogni, Francesco…[et al.]. What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy. Neural Plasticity. 2012. Vol. 2012, no. 2012, pp.1-11.
https://search.emarefa.net/detail/BIM-1002453
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1002453