CDKL5 Reference List



Pubmed ID Authors Title Journal Volume & Page # Year Search RettBase
24715584 Boutry-Kryza, N., Ville, D., Labalme, A., Calender, A., Dupont, J.-M., Touraine, R., Edery, P., des Portes, V., Sanlaville, D., Lesca, G. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl American Journal of Medical Genetics Part A 164A:2025-2028 2014 GO!
24564546 Zhao, Y., Zhang, X., Bao, X., Zhang, Q., Zhang, J., Cao, G., Zhang, J., Li, J., Wei, L., Pan, H., Wu, X. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients BMC Medical Genetics 15:24 2014 GO!
23934111 Epi4K Consortium and Epilepsy Phenome/Genome Project De novo mutations in epileptic encephalopathies Nature 501:217-221 2013 GO!
23828526 Ermel, E.L., Carneiro, L.C., de Souza, C.F.M., de Souza Crippa, A.C., Sanseverino, M.T.V., Raskin, S. Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients Arq Neuropsiquiatr 71:414-415 2013 GO!
23756444 Diebold, B., Delepine, C., Gataullina, S., Delahaye, A., Nectoux, J., Bienvenu, T. Mutations in the C-terminus of CDKL5: proceed with caution European Journal of Human Genetics 22:270-272 2014 GO!
23708187 Carvill, G.L., Heavin, S.B., Yendle, S.C., McMahon, J.M., O'Roak, B.J., Cook, J., Khan, A., Dorschner, M.O., Waver, M., Calbert, S., Malone, S., Wallace, G., Stanley, T., Bye, A.M.E., Bleasel, A., Howell, K.B., Kivity, S., Mackay, M.T., Rodriguez-Casero, V., Webster, R., Korczyn, A., Afawi, Z., Zelnick, N., Lerman-Sagie, T., Lev, D., Moller, R.S., Gill, D., Andrade, D.M., Freeman, J.L., Saleir, L.G., Shendure, J., Berkovic, S.F., Scheffer, I.E., Mefford, H.C. Targeted resequencing in epileptic encephalopathies identified de novo mutations in CHD2 and SYNGAP1 Nature Genetics 45:825-830 2013 GO!
23647072 Veeramah, K.R., Johnstone, L., Karafet, T.M., Wolf, D., Sprissler, R., Salogiannis, J., Barth-Maron, A., Greenberg, M.E., Stuhlmann, T., Weinert, S., Jentsch, T.J., Pazzi, M., Restifo, L.L., Talwar, D., Erickson, R.P., Hammer, M.F. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies Epilepsia 54:1270-1281 2013 GO!
23583054 Mirzaa, G.M., Paciorkowski, A.R., Marsh, E.D., Berry-Kravis, E.M., Medne, L., Grix, A., Wirrell, E.C., Powell, B.R., Nickels, K.C., Burton, B., Paras, A., Kim, K., Chung, W., Dobyns, W.B., Das, S. CDKL5 and ARX mutations in males with early-onset epilepsy Pediatric Neurology 48:367-377 2013 GO!
23242510 Das, D.K., Mehta, B., Menon, S.T., Raha, S., Udani, V. Novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome Neuromol Med 15:218-225 2013 GO!
23151060 Hagebeuk, E.E.O., van den Bossche, R.A.S., de Weerd, A.W. Respiratory and sleep disturbances in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene Developmental Medicine & Child Neurology 55:480-484 2013 GO!
23064044 Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations Gene 512:70-75 2013 GO!
22982301 Zhang, Z., Bao, X., Zhang, J., Zhao, Y., Cao, G., Pan, H., Zhang, J., Wei, L., Wu, X. Molecular characteristics of Chinese patients with Rett syndrome European Journal of Medical Genetics 55:677-681 2012 GO!
22867051 Maortua, H., Martinez-Bouzas, C., Calvo, M.-T., Domingo, M.-R., Ramos, F., Garcia-Ribes, A., Martinez, M.-J., Lopez-Ariztegui, M.-A., Puente, N., Rubio, I., Tejada, M.-I. CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain BMC Medical Genetics 13:68 2012 GO!
22832775 Jahn, J., Caliebe, von Spiczak, S. Boor, R., Stefanova, I., Stephani, U., Helbig, I., Muhle, H. CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients Journal of Child Neurology 28:937-941 2013 GO!
22812903 Paine, S.M.L., Munot, P., Charmichael, J., Das, K., Weber, M.A., Prabhakar, P., Jacques, T.S. The neuropathological consequences of CDKL5 mutation Neuropathology and Applied Neurobiology 38:744-747 2012 GO!
22678952 Bahi-Buisson, N., Villeneuve, N., Caietta, E., Jacquette, A., Maurey, H., Matthijs, G., Van Esch, H., Delahaye, A., Moncla, A., Milh, M., Zufferey, F., Diebold, B., Bienvenu, T. Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships American Journal of Medical Genetics 158A:1612-1619 2012 GO!
22670143 Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T. Adult phenotypes in Angelman- and Rett-like syndromes Mol Syndromol 2:217-234 2012 GO!
22430159 Pini, G., Bigoni, S., Engerstrom, I.W., Calabrese, O., Felloni, B., Scusa, M.F., di Marco, P., Borelli, P., Bonuccelli, U., Julu, P.O.O., Nielsen, J.B., Morin, B., Hansen, S., Gobbi, G., Visconti, P., Pintaudi, M., Edvige, V., Romanelli, A., Bianchi, F., Casarano, M., Battini, R., Cioni, G., Ariani, F., Renieri, A., Benincasa, A., Delamont, R.S., Zappella, M., ESRRA group Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases Neuropediatrics 43:37-43 2012 GO!
22264704 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 46:101-105 2012 GO!
21802232 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 & Development 34:364-367 2012 GO!
21775177 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 15:432-438 2011 GO!
21770923 Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, 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 52:1835-1842 2011 GO!
21765152 Stalpers, X., Spruijt, L., Yntema, H.G., Verrips, A. Clinical phenotype of 5 females with a CDKL5 mutation Journal of Child Neurology 27:90-93 2012 GO!
21318334 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 12:165-167 2011 GO!
21309761 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 & Child Neurology 53:354-360 2011 GO!
21293276 Bartnik, M., Derwinska, K., Gos, M., Obersztyn, E., Kolodziejska, K.E., Erez, A., Szpecht-Potocka, A., Fang, P., Terczynska, I., Mierzewska, H., Lohr, N.J., Bellus, G.A., Reimschisel, T., Bocian, E., Mazurczak, T., Cheung, S.W., Stankiewicz, P. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females Genetics in Medicine 13:447-452 2011 GO!
21212452 Rajaei, S., Erlandson, A., Kyllerman, M., Albage, M., Lundstrom, I., Karrstedt, E.-L., Hagberg, B. Early infantile onset "congenital" Rett syndrome variants: Swedish experience through four decades and mutation analysis Journal of Child Neurology 26:65-71 2011 GO!
21160487 Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, 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 56:183-187 2011 GO!
20602487 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 Part A 152A:2110-2111 2010 GO!
20493745 Castren, M., Gaily, E., Tnstrom, C., Lahdetie, J., Archer, H., Ala-Mello, S. Epilepsy caused by CDKL5 mutations European Journal of Paediatric Neurology 15:65-69 2011 GO!
20479760 Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thibodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia Molecular Psychiatry 16:867-880 2011 GO!
20397747 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 Res Hum Genet 13:168-178 2010 GO!
19807736 Cordova-Fletes, C., Rademacher, N., Muller, I., Mundo-Ayala, J.N., Morales-Jeanhs, E.A., Garcia-Ortiz, J.E., Leon-Gil, A., Rivera, H., Dominguez, M.G., Kalscheuer, V.M. CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome Clinical Genetics 77:92-96 2010 GO!
19793311 Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Lyet, V., N'guyen, M.A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C Mutation spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature Clinical Genetics 76:357-371 2009 GO!
19780792 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 51:647-654 2010 GO!
19740913 Ricciardi, S., Kilstrup-Nielsen, C., Bienvenu, T., Jacquette, A., Landsberger, N., Broccoli, V. CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery Human Molecular Genetics 18:4590-4602 2009 GO!
19734009 Nabbout, R., Depienne, C., Chipaux, M., Girard, B., Souville, I., Trouillard, O., Dulac, O., Chelly, J., Afenjar, A., Heron, D., Leguern, E., Beldjord, C., Bienveru, T., Bahi-Buisson, N. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy Epilepsy Research 87:25-30 2009 GO!
19564592 Fichou, Y., Bieth, E., Bahi-Buisson, N., Nectoux, J., Girard, B., Chelly, J., Chaix, Y., Bienvenu, T. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy Neurology 73:77-78 2009 GO!
19471977 Erez, A., Patel, A.J., Wang, X., Xia, Z., Bhatt, S.S., Craigen, W., Cheung, S.W., Lewis, R.A., Fang, P., Davenport, S.L.H., Stankiewicz, P., Lalani, S.R. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder Neurogenetics 10:363-369 2009 GO!
19455595 Bahi-Buisson, N., Girard, B., Gautier, A., Nectoux, J., Fichou, J., 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 Part B 153B:202-207 2010 GO!
19428276 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 14:188-191 2010 GO!
19396824 Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., Marchi, M., Riva, D. A CDKL5 mutated child with precocious puberty American Journal of Medical Genetics Part A 149A:1046-1051 2009 GO!
19362436 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 & Development 32:17-24 2010 GO!
19253388 Sprovieri, T., Conforti, F.L., Fiumara, A., Mazzei, R., Ungaro, C., Citrigno, L., Muglia, M., Arena, A., Quattrone, A. A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype American Journal of Medical Genetics Part A 149A:722-725 2009 GO!
19241098 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 10:241-250 2009 GO!
19161156 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 Part A 149A:232-236 2009 GO!
18809835 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 71:997-999 2008 GO!
18790821 Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, A., Rio, R., Heron, 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 131:2647-2661 2008 GO!
18564362 Nishimura, A., Takano, T., Mizuguchi, T., Saitsu, H., Takeuchi, Y., Matsumoto, N. CDKL5 disruption by t(X;18) in a girl with West syndrome Clinical Genetics 74:288-290 2009 GO!
18063413 Pintaudi, M., Giuseppina Baglietto, M., 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 Behav 12:326-331 2008 GO!
17993579 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 J Med Genet 45:172-178 2008 GO!
17256798 Van Esch, H., Jansen, A., Bauters, M., Froyen, G., Fryns, J.-P. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes American Journal of Medical Genetics A 143A:364-369 2007 GO!
17089071 Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome J Hum Genet 52:38-47 2007 GO!
16813600 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 Clin Genet 70:29-33 2006 GO!
16611748 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 J Med Genet 43:729-734 2006 GO!
16015284 Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Bieber Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, 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 Eur J Hum Genet 13:1113-1120 2005 GO!
15917271 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 Hum Mol Genet 14:1935-1946 2005 GO!
15689447 Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, C., Longo, I., Meloni I., Giachino, D., Bruttini, M., Hayek, G., Zapella, M., Renieri, A. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms J Med Genet 42:103-107 2005 GO!
15499549 Tao, J., Van Esch, H., Hage-dorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.-P., Schwinger, E., Gecz, J., Ropers, H.-H., Kalcheuer, V.M. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation Am J Hum Genet 75:1149-1154 2004 GO!
15492925 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., Gecz, J. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation Am J Hum Genet 75:1079-1093 2004 GO!
N/A Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain Journal of Pediatric Epilepsy 1:27-35 2012 GO!

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