CDKL5 Reference List
Pubmed ID | Authors | Title | Journal | Volume & Page # | Year | Search RettBase |
---|---|---|---|---|---|---|
27734276 | Gokben, S. Onay, H. Yilmaz, S. Atik, T. Serdaroglu, G. Tekin, H. Ozkinay, F. | Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy | Acta neurologica Belgica | 117(1):131-138 | 2017 | GO! |
27599155 | Lilles, S. Talvik, I. Noormets, K. Vaher, U. Ounap, K. Reimand, T. Sander, V. Ilves, P. Talvik, T. | CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature | Neuropediatrics. | 47(6):361-367 | 2016 | GO! |
27290639 | N | New perspective in diagnostics of mitochondrial disorders: two years experience with whole-exome sequencing at a national paediatric centre | J Transl Med | 14(1):174 | 2016 | GO! |
27265524 | Christianto, A. Katayama, S. Kameshita, I. Inazu, T. | A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome | Clin Chim Acta | 459:132-136 | 2016 | GO! |
27187038 | N | Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy | Folia Biol (Praha) | 62(2):67-74 | 2016 | GO! |
25657822 | Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J | There is variability in the attainment of developmental milestones in the CDKL5 disorder | J Neurodev Disord. | 7:2 | 2015 | GO! |
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! |
Displaying 67 entries