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

Neural Plasticity

Volumn 2012, Issue , 2012, Pages

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

^a UNIVERSITY OF INSUBRIA   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE LIKE 5; DNA METHYLTRANSFERASE; MESSENGER RNA; UNCLASSIFIED DRUG; CDKL5 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

AMINO ACID SEQUENCE; CARBOXY TERMINAL SEQUENCE; CATALYSIS; CELL MATURATION; CELL NUCLEUS; CLINICAL FEATURE; CYTOPLASM; CYTOSKELETON; DENDRITE; DISEASE ASSOCIATION; EMBRYO DEVELOPMENT; ENZYME INHIBITION; ENZYME PHOSPHORYLATION; EPIGENETICS; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EXON; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GENICULATE NUCLEUS; HUMAN; INFANTILE SPASM; KLINEFELTER SYNDROME; LOSS OF FUNCTION MUTATION; NERVE CELL DIFFERENTIATION; NERVE CELL PLASTICITY; NERVE CELL STIMULATION; NEUROMODULATION; NONHUMAN; PHENOTYPE; POSTNATAL DEVELOPMENT; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; RETT SYNDROME; REVIEW; STIMULUS RESPONSE; SYNAPSE; THALAMUS NUCLEUS; TRANSCRIPTION REGULATION; ANIMAL; GENETICS; INTELLECTUAL IMPAIRMENT; METABOLISM; MUTATION; PHYSIOLOGY; SIGNAL TRANSDUCTION;

ANIMALS; EPILEPSY; HUMANS; INTELLECTUAL DISABILITY; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SIGNAL TRANSDUCTION; SPASMS, INFANTILE;

EID: 84863737648     PISSN: 20905904     EISSN: 16875443     Source Type: Journal    
DOI: 10.1155/2012/728267     Document Type: Review

References (63)

1. Montini E., Andolfi G., Caruso A., Buchner G., Walpole S. M., Mariani M., Consalez G., Trump D., Ballabio A., Franco B., Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region Genomics 1998 51 3 427 433 (Pubitemid 28413209)
2. Kalscheuer V. M., Tao J., Donnelly A., Hollway G., Schwinger E., Kbart S., Menzel C., Hoeltzenbein M., Tommerup N., Eyre H., Harbord M., Haan E., Sutherland G. R., Ropers H. H., Gécz J., Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation American Journal of Human Genetics 2003 72 6 1401 1411 (Pubitemid 36628380)
3. Williamson S. L., Giudici L., Kilstrup-Nielsen C., Gold W., Pelka G. J., Tam P. P. L., Grimm A., Prodi D., Landsberger N., Christodoulou J., A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain Human Genetics 2011 1 14
4. Tao J., Van Esch H., Hagedorn-Greiwe M., Hoffmann K., Moser B., Raynaud M., Sperner J., Fryns J. P., Schwinger E., Gécz J., Ropers H. H., Kalscheuer V. M., Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation American Journal of Human Genetics 2004 75 6 1149 1154 (Pubitemid 39532084)
5. Weaving L. S., Christodoulou J., Williamson S. L., Friend K. L., McKenzie O. L. D., Archer H., Evans J., Clarke A., Pelka G. J., Tam P. P. L., Watson C., Lahooti H., Ellaway C. J., Bennetts B., Leonard H., Gécz J., Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation American Journal of Human Genetics 2004 75 6 1079 1093 (Pubitemid 39532075)
6. Intusoma U., Hayeeduereh F., Plong-On O., Sripo T., Vasiknanonte P., Janjindamai S., Lusawat A., Thammongkol S., Visudtibhan A., Limprasert P., Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity European Journal of Paediatric Neurology 2011
7. Artuso R., Mencarelli M. A., Polli R., Sartori S., Ariani F., Pollazzon M., Marozza A., Cilio M. R., Specchio N., Vigevano F., Vecchi M., Boniver C., Dalla Bernardina B., Parmeggiani A., Buoni S., Hayek G., Mari F., Renieri A., Murgia A., Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria Brain and Development 2010 32 1 17 24
8. Stalpers X. L., Spruijt L., Yntema H. G., Verrips A., Clinical phenotype of 5 females with a CDKL5 mutation Journal of Child Neurology 2012 27 1 90 93
9. Nemos C., Lambert L., Giuliano F., Doray B., Roubertie A., Goldenberg A., Delobel B., Layet V., N'guyen M. A., Saunier A., Verneau F., Jonveaux P., Philippe C., Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature Clinical Genetics 2009 76 4 357 371
10. Liang J. S., Shimojima K., Takayama R., Natsume J., Shichiji M., Hirasawa K., Imai K., Okanishi T., Mizuno S., Okumura A., Sugawara M., Ito T., Ikeda H., Takahashi Y., Oguni H., Imai K., Osawa M., Yamamoto T., CDKL5 alterations lead to early epileptic encephalopathy in both genders Epilepsia 2011
11. Saitsu H., Osaka H., Nishiyama K., Tsurusaki Y., Doi H., Miyake N., Matsumoto N., A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5 Brain and Development 2011
12. Bahi-Buisson N., Nectoux J., Rosas-Vargas H., Milh M., Boddaert N., Girard B., Cances C., Ville D., Afenjar A., Rio M., Héron D., N'Guyen Morel M. A., Arzimanoglou A., Philippe C., Jonveaux P., Chelly J., Bienvenu T., Key clinical features to identify girls with CDKL5 mutations Brain 2008 131 10 2647 2661
13. Neul J. L., Kaufmann W. E., Glaze D. G., Christodoulou J., Clarke A. J., Bahi-Buisson N., Leonard H., Bailey M. E. S., Schanen N. C., Zappella M., Renieri A., Huppke P., Percy A. K., Rett syndrome: Rrevised diagnostic criteria and nomenclature Annals of Neurology 2010 68 6 944 950
14. Saletti V., Canafoglia L., Cambiaso P., Russo S., Marchi M., Riva D., A CDKL5 mutated child with precocious puberty American Journal of Medical Genetics A 2009 149 5 1046 1051
15. Bahi-Buisson N., Girard B., Gautier A., Nectoux J., Fichou Y., Saillour Y., Poirier K., Chelly J., Bienvenu T., Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene American Journal of Medical Genetics B 2010 153 1 202 207
16. Moseley B. D., Dhamija R., Wirrell E. C., Nickels K. C., Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations Pediatric Neurology 2012 46 2 101 105
17. Chahrour M., Zoghbi H. Y., The story of rett syndrome: from clinic to neurobiology Neuron 2007 56 3 422 437 (Pubitemid 350026269)
18. Mei D., Marini C., Novara F., Bernardina B. D., Granata T., Fontana E., Parrini E., Ferrari A. R., Murgia A., Zuffardi O., Guerrini R., Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy Epilepsia 2010 51 4 647 654
19. Elia M., Falco M., Ferri R., Spalletta A., Bottitta M., Calabrese G., Carotenuto M., Musumeci S. A., Lo Giudice M., Fichera M., CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy Neurology 2008 71 13 997 999
20. Sartori S., Di Rosa G., Polli R., Bettella E., Tricomi G., Tortorella G., Murgia A., A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome American Journal of Medical Genetics A 2009 149 2 232 236
21. Fichou Y., Nectoux J., Bahi-Buisson N., Chelly J., Bienvenu T., An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain Journal of Human Genetics 2011 56 1 52 57
22. Mari F., Azimonti S., Bertani I., Bolognese F., Colombo E., Caselli R., Scala E., Longo I., Grosso S., Pescucci C., Ariani F., Hayek G., Balestri P., Bergo A., Badaracco G., Zappella M., Broccoli V., Renieri A., Kilstrup-Nielsen C., Landsberger N., CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome Human Molecular Genetics 2005 14 14 1935 1946 (Pubitemid 41418030)
23. Rademacher N., Hambrock M., Fischer U., Moser B., Ceulemans B., Lieb W., Boor R., Stefanova I., Gillessen-Kaesbach G., Runge C., Korenke G. C., Spranger S., Laccone F., Tzschach A., Kalscheuer V. M., Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features Neurogenetics 2011 12 2 165 167
24. Chen Q., Zhu Y. C., Yu J., Miao S., Zheng J., Xu L., Zhou Y., Li D., Zhang C., Tao J., Xiong Z. Q., CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling Journal of Neuroscience 2010 30 38 12777 12786
25. Russo S., Marchi M., Cogliati F., Bonati M. T., Pintaudi M., Veneselli E., Saletti V., Balestrini M., Ben-Zeev B., Larizza L., Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes Neurogenetics 2009 10 3 241 250
26. Bahi-Buisson N., Kaminska A., Boddaert N., Rio M., Afenjar A., Gérard M., Giuliano F., Motte J., Héron D., Morel M. A. N., Plouin P., Richelme C., Des Portes V., Dulac O., Philippe C., Chiron C., Nabbout R., Bienvenu T., The three stages of epilepsy in patients with CDKL5 mutations Epilepsia 2008 49 6 1027 1037 (Pubitemid 351793996)
27. Masliah-Plachon J., Auvin S., Nectoux J., Fichou Y., Chelly J., Bienvenu T., Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males American Journal of Medical Genetics A 2010 152 8 2110 2111
28. Pintaudi M., Baglietto M. G., Gaggero R., Parodi E., Pessagno A., Marchi M., Russo S., Veneselli E., Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature Epilepsy and Behavior 2008 12 2 326 331
29. Scala E., Ariani F., Mari F., Caselli R., Pescucci C., Longo I., Meloni I., Giachino D., Bruttini M., Hayek G., Zappella M., Renieri A., CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms Journal of Medical Genetics 2005 42 2 103 107 (Pubitemid 40204363)
30. Archer H. L., Evans J., Edwards S., Colley J., Newbury-Ecob R., O'Callaghan F., Huyton M., O'Regan M., Tolmie J., Sampson J., Clarke A., Osborne J., CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients Journal of Medical Genetics 2006 43 9 729 734 (Pubitemid 44483915)
31. Evans J. C., Archer H. L., Colley J. P., Ravn K., Nielsen J. B., Kerr A., Williams E., Christodoulou J., Gécz J., Jardine P. E., Wright M. J., Pilz D. T., Lazarou L., Cooper D. N., Sampson J. R., Butler R., Whatley S. D., Clarke A. J., Early onset seizures and Rett-like features associated with mutations in CDKL5 European Journal of Human Genetics 2005 13 10 1113 1120 (Pubitemid 41486221)
32. White R., Ho G., Schmidt S., Scheffer I. E., Fischer A., Yendle S. C., Bienvenu T., Nectoux J., Ellaway C. J., Darmanian A., Tong X., Cloosterman D., Bennetts B., Kalra V., Fullston T., Gecz J., Cox T. C., Christodoulou J., Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders Twin Research and Human Genetics 2010 13 2 168 178
33. Rosas-Vargas H., Bahi-Buisson N., Philippe C., Nectoux J., Girard B., N'Guyen Morel M. A., Gitiaux C., Lazaro L., Odent S., Jonveaux P., Chelly J., Bienvenu T., Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy Journal of Medical Genetics 2008 45 3 172 178 (Pubitemid 351373747)
34. Castrén M., Gaily E., Tengstrm C., Lhdetie J., Archer H., Ala-Mello S., Epilepsy caused by CDKL5 mutations European Journal of Paediatric Neurology 2011 15 1 65 69
35. Melani F., Mei D., Pisano T., Savasta S., Franzoni E., Ferrari A. R., Marini C., Guerrini R., CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life Developmental Medicine and Child Neurology 2011 53 4 354 360
36. Hadzsiev K., Polgar N., Bene J., Komlosi K., Karteszi J., Hollody K., Kosztolanyi G., Renieri A., Melegh B., Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations Journal of Human Genetics 2011 56 3 183 187
37. Nectoux J., Heron D., Tallot M., Chelly J., Bienvenu T., Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome Clinical Genetics 2006 70 1 29 33 (Pubitemid 44192731)
38. Psoni S., Willems P. J., Kanavakis E., Mavrou A., Frissyra H., Traeger-Synodinos J., Sofokleous C., Makrythanassis P., Kitsiou-Tzeli S., A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder European Journal of Paediatric Neurology 2010 14 2 188 191
39. Bertani I., Rusconi L., Bolognese F., Forlani G., Conca B., De Monte L., Badaracco G., Landsberger N., Kilstrup-Nielsen C., Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation The Journal of Biological Chemistry 2006 281 42 32048 32056 (Pubitemid 46041465)
40. Lin C., Franco B., Rosner M. R., CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders Human Molecular Genetics 2005 14 24 3775 3786 (Pubitemid 43020080)
41. Rusconi L., Salvatoni L., Giudici L., Bertani I., Kilstrup-Nielsen C., Broccoli V., Landsberger N., CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail The Journal of Biological Chemistry 2008 283 44 30101 30111
42. Froyen G., Van Esch H., Bauters M., Hollanders K., Frints S. G. M., Vermeesch J. R., Devriendt K., Fryns J. P., Marynen P., Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes Human Mutation 2007 28 10 1034 1042 (Pubitemid 47519397)
43. Tzschach A., Chen W., Erdogan F., Hoeller A., Ropers H. H., Castellan C., Ullmann R., Schinzel A., Characterization of interstitial Xp duplications in two families by tiling path array CGH American Journal of Medical Genetics A 2008 146 2 197 203
44. Thorson L., Bryke C., Rice G., Artzer A., Schilz C., Israel J., Huber S., Laffin J., Raca G., Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals American Journal of Medical Genetics A 2010 152 4 904 915
45. Sismani C., Anastasiadou V., Kousoulidou L., Parkel S., Koumbaris G., ilina O., Bashiardes S., Spanou E., Kurg A., Patsalis P. C., 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features European Journal of Medical Genetics 2011 54 5 e510 e515
46. Carouge D., Host L., Aunis D., Zwiller J., Anglard P., CDKL5 is a brain MeCP2 target gene regulated by DNA methylation Neurobiology of Disease 2010 38 3 414 424
47. Rusconi L., Kilstrup-Nielsen C., Landsberger N., Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation The Journal of Biological Chemistry 2011 286 42 36550 36558
48. Cohen S., Greenberg M. E., Communication between the synapse and the nucleus in neuronal development, plasticity, and disease Annual Review of Cell and Developmental Biology 2008 24 183 209
49. Monteggia L. M., Kavalali E. T., Rett Syndrome and the Impact of MeCP2 Associated Transcriptional Mechanisms on Neurotransmission Biological Psychiatry 2009 65 3 204 210
50. Kaufmann W. E., Moser H. W., Dendritic anomalies in disorders associated with mental retardation Cerebral Cortex 2000 10 10 981 991
51. Tolias K. F., Duman J. G., Um K., Control of synapse development and plasticity by Rho GTPase regulatory proteins Progress in Neurobiology 2011 94 2 133 148
52. Hardingham G. E., Bading H., Synaptic versus extrasynaptic NMDA receptor signalling: Implications for neurodegenerative disorders Nature Reviews Neuroscience 2010 11 10 682 696
53. Hardingham G. E., Fukunaga Y., Bading H., Extrasynaptic NMDARs oppose synaptic NMDARs by triggering CREB shut-off and cell death pathways Nature Neuroscience 2002 5 5 405 414 (Pubitemid 34454245)
54. Sierra-Paredes G., Sierra-Marcuo G., Extrasynaptic GABA and glutamate receptors in epilepsy CNS and Neurological Disorders 2007 6 4 288 300 (Pubitemid 47232941)
55. Greer P. L., Hanayama R., Bloodgood B. L., Mardinly A. R., Lipton D. M., Flavell S. W., Kim T. K., Griffith E. C., Waldon Z., Maehr R., Ploegh H. L., Chowdhury S., Worley P. F., Steen J., Greenberg M. E., The angelman syndrome protein Ube3A regulates synapse development by ubiquitinating Arc Cell 2010 140 5 704 716
56. Kameshita I., Sekiguchi M., Hamasaki D., Sugiyama Y., Hatano N., Suetake I., Tajima S., Sueyoshi N., Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1 Biochemical and Biophysical Research Communications 2008 377 4 1162 1167
57. Chen W. G., Chang Q., Lin Y., Meissner A., West A. E., Griffith E. C., Jaenisch R., Greenberg M. E., Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2 Science 2003 302 5646 885 889 (Pubitemid 37339632)
58. Martinowich K., Hattori D., Wu H., Fouse S., He F., Hu Y., Fan G., Sun Y. E., DNA methylation-related chromatin remodeling in activity-dependent Bdnf gene regulation Science 2003 302 5646 890 893 (Pubitemid 37339633)
59. Zhou Z., Hong E. J., Cohen S., Zhao W. N., Ho H. Y. H., Schmidt L., Chen W. G., Lin Y., Savner E., Griffith E. C., Hu L., Steen J. A. J., Weitz C. J., Greenberg M. E., Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation Neuron 2006 52 2 255 269 (Pubitemid 44548348)
60. Tao J., Hu K., Chang Q., Wu H., Sherman N. E., Martinowich K., Klose R. J., Schanen C., Jaenisch R., Wang W., Sun Y. E., Phosphorylation of MeCP2 at serine 80 regulates its chromatin association and neurological function Proceedings of the National Academy of Sciences of the United States of America 2009 106 12 4882 4887
61. Cohen S., Gabel H. W., Hemberg M., Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function Neuron 2011 72 1 72 85
62. Li H., Zhong X., Chau K. F., Williams E. C., Chang Q., Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory Nature Neuroscience 2011 14 8 1001 1008
63. Day J. J., Sweatt J. D., Epigenetic Mechanisms in Cognition Neuron 2011 70 5 813 829