What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy

Charlotte Kilstrup-Nielsen, Laura Rusconi, Paolo La Montanara, Dalila Ciceri, Anna Bergo, Francesco Bedogni, Nicoletta Landsberger

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article number728267
JournalNeural Plasticity
Volume2012
DOIs
Publication statusPublished - 2012

Fingerprint

Cyclin-Dependent Kinase 5
Brain Diseases
Rett Syndrome
Muscle Hypotonia
Neuronal Plasticity
Protein-Serine-Threonine Kinases
Brain
Phosphotransferases
Gene Expression
Mutation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Kilstrup-Nielsen, C., Rusconi, L., La Montanara, P., Ciceri, D., Bergo, A., Bedogni, F., & Landsberger, N. (2012). What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. Neural Plasticity, 2012, [728267]. https://doi.org/10.1155/2012/728267

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. / Kilstrup-Nielsen, Charlotte; Rusconi, Laura; La Montanara, Paolo; Ciceri, Dalila; Bergo, Anna; Bedogni, Francesco; Landsberger, Nicoletta.

In: Neural Plasticity, Vol. 2012, 728267, 2012.

Research output: Contribution to journalArticle

Kilstrup-Nielsen, C, Rusconi, L, La Montanara, P, Ciceri, D, Bergo, A, Bedogni, F & Landsberger, N 2012, 'What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy', Neural Plasticity, vol. 2012, 728267. https://doi.org/10.1155/2012/728267
Kilstrup-Nielsen C, Rusconi L, La Montanara P, Ciceri D, Bergo A, Bedogni F et al. What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. Neural Plasticity. 2012;2012. 728267. https://doi.org/10.1155/2012/728267
Kilstrup-Nielsen, Charlotte ; Rusconi, Laura ; La Montanara, Paolo ; Ciceri, Dalila ; Bergo, Anna ; Bedogni, Francesco ; Landsberger, Nicoletta. / What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. In: Neural Plasticity. 2012 ; Vol. 2012.
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