CDKL5

Summary

Gene Symbol: CDKL5
Description: cyclin dependent kinase like 5
Alias: CFAP247, EIEE2, ISSX, STK9, cyclin-dependent kinase-like 5, cyclin dependent kinase 5 transcript, serine/threonine kinase 9, serine/threonine-protein kinase 9
Species: human
Products:     CDKL5

Top Publications

  1. Evans J, Archer H, Colley J, Ravn K, Nielsen J, Kerr A, et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005;13:1113-20 pubmed
    Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome)...
  2. Pintaudi M, Baglietto M, Gaggero R, Parodi E, Pessagno A, Marchi M, et al. Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Epilepsy Behav. 2008;12:326-31 pubmed
    ..findings of two patients affected by a previously unreported cyclin-dependent kinase-like 5 (CDKL5) gene mutation are described...
  3. Psoni S, Willems P, Kanavakis E, Mavrou A, Frissyra H, Traeger Synodinos J, et al. A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. Eur J Paediatr Neurol. 2010;14:188-91 pubmed publisher
    ..Atypical RS with severe early-onset encephalopathy and therapy-resistant epilepsy can be due to mutations in the CDKL5 (Cyclin-Dependent Kinase-like 5) gene in Xp22...
  4. Liang J, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, et al. CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia. 2011;52:1835-42 pubmed publisher
    Genetic mutations of the cyclin-dependent kinase-like 5 gene (CDKL5) have been reported in patients with epileptic encephalopathy, which is characterized by intractable seizures and severe-to-profound developmental delay...
  5. Intusoma U, Hayeeduereh F, Plong On O, Sripo T, Vasiknanonte P, Janjindamai S, et al. Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. Eur J Paediatr Neurol. 2011;15:432-8 pubmed publisher
    To perform CDKL5 mutation screening in Thai children with cryptogenic infantile intractable epilepsy and to determine the clinical sensitivity of CDKL5 screening when different inclusion criteria were applied...
  6. Melani F, Mei D, Pisano T, Savasta S, Franzoni E, Ferrari A, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol. 2011;53:354-60 pubmed publisher
    Cyclin-dependent kinase-like 5 (CDKL5) gene abnormalities cause an early-onset epileptic encephalopathy...
  7. Russo S, Marchi M, Cogliati F, Bonati M, Pintaudi M, Veneselli E, et al. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics. 2009;10:241-50 pubmed publisher
    It has been found that CDKL5 gene mutations are responsible for early-onset epilepsy and drug resistance...
  8. Amenduni M, De Filippis R, Cheung A, Disciglio V, Epistolato M, Ariani F, et al. iPS cells to model CDKL5-related disorders. Eur J Hum Genet. 2011;19:1246-55 pubmed publisher
    ..RTT is caused by mutations in the MECP2 gene, whereas variants can be due to mutations in either MECP2 or FOXG1 or CDKL5. Mutations in CDKL5 have been identified both in females with the early onset seizure variant of RTT and in males ..
  9. 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. Hum Mol Genet. 2009;18:4590-602 pubmed publisher
    Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause severe neurodevelopmental disorders including infantile spasms, encephalopathy, West-syndrome and an early-onset variant of Rett ..

More Information

Publications80

  1. Castrén M, Gaily E, Tengström C, Lähdetie J, Archer H, Ala Mello S. Epilepsy caused by CDKL5 mutations. Eur J Paediatr Neurol. 2011;15:65-9 pubmed publisher
    Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype...
  2. Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo R, Corbini L, et al. Myoclonic encephalopathy in the CDKL5 gene mutation. Clin Neurophysiol. 2006;117:223-7 pubmed
    Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms...
  3. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, et al. 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. 2005;14:1935-46 pubmed
    ..Recently, mutations in the CDKL5 gene, coding for a putative kinase, have been found in female patients with a phenotype overlapping with that of ..
  4. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005;42:103-7 pubmed
    ..The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation)...
  5. Tao J, Van Esch H, Hagedorn Greiwe M, Hoffmann K, Moser B, Raynaud M, et al. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet. 2004;75:1149-54 pubmed
    Recently, we showed that truncation of the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene caused mental retardation and severe neurological symptoms in two female patients...
  6. Maortua H, Martinez Bouzas C, Calvo M, Domingo M, Ramos F, Garcia Ribes A, et al. CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Med Genet. 2012;13:68 pubmed publisher
    Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months...
  7. Kalscheuer V, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, et al. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet. 2003;72:1401-11 pubmed
    X-linked West syndrome, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation...
  8. White R, Ho G, Schmidt S, Scheffer I, Fischer A, Yendle S, et al. Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet. 2010;13:168-78 pubmed publisher
    ..Recently, mutations in another X-linked gene, CDKL5 (cyclin-dependent kinase-like 5) have been found to cause atypical RTT, in particular the early onset seizure (..
  9. Bahi Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, et al. Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A. 2012;158A:1612-9 pubmed publisher
    Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been described in epileptic encephalopathies in females with infantile spasms with features that overlap with Rett syndrome...
  10. Stalpers X, Spruijt L, Yntema H, Verrips A. Clinical phenotype of 5 females with a CDKL5 mutation. J Child Neurol. 2012;27:90-3 pubmed publisher
    Mutations in the X-linked cyclin dependent kinase like 5 (CDKL5) gene have been reported in approximately 80 patients since the first description in 2003...
  11. Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, et al. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology. 2008;71:997-9 pubmed publisher
    To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations...
  12. Bahi Buisson N, Nectoux J, Rosas Vargas H, Milh M, Boddaert N, Girard B, et al. Key clinical features to identify girls with CDKL5 mutations. Brain. 2008;131:2647-61 pubmed publisher
    Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported...
  13. Rusconi L, Salvatoni L, Giudici L, Bertani I, Kilstrup Nielsen C, Broccoli V, et al. CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. J Biol Chem. 2008;283:30101-11 pubmed publisher
    Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome (RTT), West syndrome, and X-linked infantile spasms, sharing the common feature of mental retardation and ..
  14. Rosas Vargas H, Bahi Buisson N, Philippe C, Nectoux J, Girard B, N Guyen Morel M, et al. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet. 2008;45:172-8 pubmed
    Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome-like phenotype. To date, fewer than 20 different mutations have been reported...
  15. 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 Plast. 2012;2012:728267 pubmed publisher
    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 ..
  16. Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, et al. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem. 2006;281:32048-56 pubmed
    Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures ..
  17. Archer H, Evans J, Edwards S, Colley J, Newbury Ecob R, O Callaghan F, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006;43:729-34 pubmed
    To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying ..
  18. 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. J Hum Genet. 2011;56:52-7 pubmed publisher
    ..identification of a novel exon, which is referred to as exon 16b, within the cyclin-dependent kinase (CDK)-like 5 (CDKL5) gene that is implicated in the X-linked infantile spasm syndrome and the early-onset seizure variant of Rett ..
  19. Moseley B, Dhamija R, Wirrell E, Nickels K. Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatr Neurol. 2012;46:101-5 pubmed publisher
    Mutations within the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are important causes of early-onset epileptic encephalopathies...
  20. Mei D, Marini C, Novara F, Bernardina B, Granata T, Fontana E, et al. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia. 2010;51:647-54 pubmed publisher
    Mutations of the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause an X-linked encephalopathy with early onset intractable epilepsy, including infantile spasms and other seizure types, and a Rett syndrome (RTT)-like phenotype...
  21. Bahi Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gerard M, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008;49:1027-37 pubmed publisher
    Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are responsible for a severe encephalopathy with early epilepsy...
  22. Das D, Mehta B, Menon S, Raha S, Udani V. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromolecular Med. 2013;15:218-25 pubmed publisher
    ..Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with atypical Rett syndrome, X-linked infantile spasms sharing common ..
  23. Montini E, Andolfi G, Caruso A, Buchner G, Walpole S, Mariani M, et al. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics. 1998;51:427-33 pubmed
    ..our transcriptional mapping effort in the Xp22 region, we have isolated and sequenced the full-length transcript of STK9, a novel cDNA highly homologous to serine-threonine kinases...
  24. Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, et al. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clin Genet. 2009;76:357-71 pubmed publisher
    The CDKL5 gene has been implicated in the molecular etiology of early-onset intractable seizures with infantile spasms (IS), severe hypotonia and atypical Rett syndrome (RTT) features...
  25. Weaving L, Christodoulou J, Williamson S, Friend K, McKenzie O, Archer H, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004;75:1079-93 pubmed
    ..12-p22.11 between DXS1135 and DXS1214, and 16.4 Mb at Xq21.33 between DXS1196 and DXS1191. The ARX and CDKL5 genes, both of which are located within the Xp22 region, were sequenced in the affected family members, and a ..
  26. Mori Y, Downs J, Wong K, Anderson B, EPSTEIN A, Leonard H. Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life. Orphanet J Rare Dis. 2017;12:16 pubmed publisher
    ..The aim of this study was to investigate such impacts in families with a child with the CDKL5 disorder, a newly recognised genetic disorder causing severe neurodevelopmental impairments and refractory ..
  27. Baba S, Sugawara Y, Moriyama K, Inaji M, Maehara T, Yamamoto T, et al. Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation. Brain Dev. 2017;39:341-344 pubmed publisher
    ..Although the efficacy of VNS therapy for patients with intractable epilepsy associated with a genetic anomaly has not been fully established, adjunctive VNS therapy may widen the scope of treatment choices available to these patients. ..
  28. Mangatt M, Wong K, Anderson B, EPSTEIN A, Hodgetts S, Leonard H, et al. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet J Rare Dis. 2016;11:39 pubmed publisher
    Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity...
  29. Fehr S, Downs J, Ho G, de Klerk N, Forbes D, Christodoulou J, et al. Functional abilities in children and adults with the CDKL5 disorder. Am J Med Genet A. 2016;170:2860-2869 pubmed publisher
    Functional abilities in the CDKL5 disorder have been described as severely impaired, yet some individuals are able to run and use phrases for speech...
  30. Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P. Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. Brain Dev. 2007;29:239-42 pubmed
    Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) have been detected in patients presenting with seizures in the first few months of life and Rett syndrome features. Twenty-seven cases have been detected to date...
  31. Vignoli A, Savini M, Nowbut M, Peron A, Turner K, La Briola F, et al. Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome. Epilepsy Behav. 2017;66:27-33 pubmed publisher
    ..We included in this study 104 girls, aged 2-42years (mean age 13.9years): 89 had a mutation in MECP2, 5 in CDKL5, 2 in FOXG1, and the mutational status was unknown in the remaining 8. Epilepsy was present in 82 patients (79%)...
  32. Patriarchi T, Amabile S, Frullanti E, Landucci E, Lo Rizzo C, Ariani F, et al. Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice. Eur J Hum Genet. 2016;24:871-80 pubmed publisher
    Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in either MECP2, CDKL5 or FOXG1. The precise molecular mechanisms that lead to the pathogenesis of RTT have yet to be elucidated...
  33. Canning P, Park K, Goncalves J, Li C, Howard C, Sharpe T, et al. CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function. Cell Rep. 2018;22:885-894 pubmed publisher
    ..Here, we present the crystal structures of human CDKL1, CDKL2, CDKL3, and CDKL5, revealing their evolutionary divergence from CDK and mitogen-activated protein kinases (MAPKs), including an ..
  34. Coll M, Striano P, Ferrer Costa C, Campuzano O, Mates J, Del Olmo B, et al. Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP. PLoS ONE. 2017;12:e0189618 pubmed publisher
    ..Four subjects revealed variants with positive genotype-phenotype segregation: four missense variants in the CDKL5, CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1...
  35. Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, et al. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat. 2010;31:722-33 pubmed publisher
    ..1% of patients. In these patients we found diminished MECP2 and CDKL5 expression in vivo, and transcriptional reporter assays indicated that MEF2C mutations diminish synergistic ..
  36. Ermel E, Carneiro L, Souza C, Crippa A, Sanseverino M, Raskin S. Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients. Arq Neuropsiquiatr. 2013;71:414-5 pubmed publisher
  37. Tang S, Wang I, Yue C, Takano H, Terzic B, Pance K, et al. Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice. J Neurosci. 2017;37:7420-7437 pubmed publisher
    Cyclin-dependent kinase-like 5 (CDKL5) deficiency is a neurodevelopmental disorder characterized by epileptic seizures, severe intellectual disability, and autistic features...
  38. Oi A, Katayama S, Hatano N, Sugiyama Y, Kameshita I, Sueyoshi N. Subcellular distribution of cyclin-dependent kinase-like 5 (CDKL5) is regulated through phosphorylation by dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A). Biochem Biophys Res Commun. 2017;482:239-245 pubmed publisher
    Cyclin-dependent kinase-like 5 (CDKL5) is a Ser/Thr protein kinase primarily expressed in the central nervous system and is known to cause X-linked neurodevelopmental disorders such as Rett syndrome...
  39. Ko A, Youn S, Kim S, Lee J, Kim S, Choi J, et al. Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy. Epilepsy Res. 2018;141:48-55 pubmed publisher
    ..as well as SCN8A, and interestingly, the ketogenic diet also showed diverse efficacy for patients with SCN1A, CDKL5, KCNQ2, STXBP1, and SCN2A mutations...
  40. Nabbout R, Depienne C, Chipaux M, Girard B, Souville I, Trouillard O, et al. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Res. 2009;87:25-30 pubmed publisher
    ..Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in ..
  41. Trazzi S, Fuchs C, Viggiano R, De Franceschi M, Valli E, Jedynak P, et al. HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder. Hum Mol Genet. 2016;25:3887-3907 pubmed publisher
    Cyclin-dependent kinase-like 5 (CDKL5) is a Ser/Thr protein kinase predominantly expressed in the brain...
  42. Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry Kryza N, et al. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clin Genet. 2016;89:198-204 pubmed publisher
    ..imaging (MRI), metabolic screening, array-comparative genomic hybridization (CGH) and testing for mutations in CDKL5, STXBP1, and for ARX duplications. We found a probably pathogenic mutation in four patients...
  43. Lee K, Liao W. Loss of CDKL5 disrupts respiratory function in mice. Respir Physiol Neurobiol. 2018;248:48-54 pubmed publisher
    Cyclin-dependent kinase-like 5 (CDKL5) is an X-linked gene encoding a serine-threonine kinase that is highly expressed in the central nervous system...
  44. Baltussen L, Rosianu F, Ultanir S. Kinases in synaptic development and neurological diseases. Prog Neuropsychopharmacol Biol Psychiatry. 2018;84:343-352 pubmed publisher
    ..We describe recent advances on roles of kinases TAOK2, TNIK and CDKL5 in neuronal development and the converging pathways of LRRK2, PINK1 and GAK in Parkinson's Disease.
  45. Pintaudi M, Calevo M, Vignoli A, Parodi E, Aiello F, Baglietto M, et al. Epilepsy in Rett syndrome: clinical and genetic features. Epilepsy Behav. 2010;19:296-300 pubmed publisher
    ..All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes. The frequency of epilepsy was 79%...
  46. Mirzaa G, Paciorkowski A, Marsh E, Berry Kravis E, Medne L, Alkhateeb A, et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013;48:367-77 pubmed publisher
    Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females...
  47. Krause S, Rehli M, Kreutz M, Schwarzfischer L, Paulauskis J, Andreesen R. Differential screening identifies genetic markers of monocyte to macrophage maturation. J Leukoc Biol. 1996;60:540-5 pubmed
    ..Of these genes, HC-gp39 is especially interesting because it is only expressed during the late stages of MAC differentiation. ..
  48. Klein K, Yendle S, Harvey A, Antony J, Wallace G, Bienvenu T, et al. A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence. Neurology. 2011;76:1436-8 pubmed publisher
  49. Mori Y, Downs J, Wong K, Heyworth J, Leonard H. Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability. J Autism Dev Disord. 2018;48:1651-1665 pubmed publisher
    ..with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder...
  50. Jhang C, Huang T, Hsueh Y, Liao W. Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors. Hum Mol Genet. 2017;26:3922-3934 pubmed publisher
    ..While characterizing behavioral phenotypes in the mouse model of cyclin-dependent kinase-like 5 (CDKL5) disorder, a neurodevelopmental disorder caused by mutations in the X-linked gene encoding CDKL5, we found that ..
  51. Barbiero I, Valente D, Chandola C, Magi F, Bergo A, Monteonofrio L, et al. CDKL5 localizes at the centrosome and midbody and is required for faithful cell division. Sci Rep. 2017;7:6228 pubmed publisher
    The cyclin-dependent kinase-like 5 (CDKL5) gene has been associated with rare neurodevelopmental disorders characterized by the early onset of seizures and intellectual disability...
  52. Okuda K, Kobayashi S, Fukaya M, Watanabe A, Murakami T, Hagiwara M, et al. CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility. Neurobiol Dis. 2017;106:158-170 pubmed publisher
    Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe neurodevelopmental disorders accompanied by intractable epilepsies, i.e. West syndrome or atypical Rett syndrome...
  53. Hagebeuk E, Marcelis C, Alders M, Kaspers A, de Weerd A. Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation. J Child Neurol. 2015;30:1515-9 pubmed publisher
    This is the second report of a family with a recurrence of a CDKL5 mutation (c. 283-3_290del) in 2 sisters. Both parents tested negative for the mutation in all tissues, but germline mosaicism is likely...
  54. Diebold B, Delepine C, Gataullina S, Delahaye A, Nectoux J, Bienvenu T. Mutations in the C-terminus of CDKL5: proceed with caution. Eur J Hum Genet. 2014;22:270-2 pubmed publisher
    Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene have been described in girls with Rett-like features and early-onset epileptic encephalopathy including infantile spasms...
  55. 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. Am J Med Genet A. 2010;152A:2110-1 pubmed publisher
  56. Rademacher N, Hambrock M, Fischer U, Moser B, Ceulemans B, Lieb W, et al. Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics. 2011;12:165-7 pubmed publisher
  57. Pini G, Bigoni S, Engerstrom I, Calabrese O, Felloni B, Scusa M, et al. Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics. 2012;43:37-43 pubmed publisher
    Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene.
  58. Mazziotti R, Lupori L, Sagona G, Gennaro M, Della Sala G, Putignano E, et al. Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice. Hum Mol Genet. 2017;26:2290-2298 pubmed publisher
    b>CDKL5 disorder is a neurodevelopmental disorder still without a cure. Murine models of CDKL5 disorder have been recently generated raising the possibility of preclinical testing of treatments...
  59. Christianto A, Katayama S, Kameshita I, Inazu T. A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome. Clin Chim Acta. 2016;459:132-136 pubmed publisher
    ..Mutations in Methyl CpG binding protein 2 (MECP2), Cyclin dependent kinase-like 5 (CDKL5) and Forkhead box G1 (FOXG1) have been associated with classic and/or variant RTT...
  60. Okuda K, Tanaka T. [Towards elucidating the regulatory roles of CDKL5 in synaptic transmission]. Nihon Yakurigaku Zasshi. 2015;145:183-6 pubmed publisher
  61. Romano E, Cosentino L, Laviola G, De Filippis B. Genes and sex hormones interaction in neurodevelopmental disorders. Neurosci Biobehav Rev. 2016;67:9-24 pubmed publisher
    ..A focus is made on disorders of well-established genetic origin, such as Rett syndrome, CDKL5-associated disorders, Fragile X and Down syndrome...
  62. Gokben S, Serdaroglu G, Yilmaz S, Bienvenu T, Ceylaner S. Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. Turk J Pediatr. 2015;57:272-6 pubmed
    ..Herein, we report the first two Turkish cases of cyclin-dependent kinase-like 5 gene-related epileptic encephalopathy with novel mutations in exon 8, which is located in the catalytic domain of the gene. ..
  63. Pantaleón F G, Juvier R T. [Molecular basis of Rett syndrome: A current look]. Rev Chil Pediatr. 2015;86:142-51 pubmed publisher
    ..Of the 1,348 articles found, 42 articles were selected, which reported 3 genes causing the syndrome: MECP2, CDKL5 and FOXG...
  64. Jähn J, Caliebe A, von Spiczak S, Boor R, Stefanova I, Stephani U, et al. CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients. J Child Neurol. 2013;28:937-41 pubmed publisher
    b>CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. As yet, few studies report on long-term observations in patients with CDKL5-related epileptic encephalopathy...
  65. Nectoux J, Fichou Y, Cagnard N, Bahi Buisson N, Nusbaum P, Letourneur F, et al. Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. J Mol Med (Berl). 2011;89:193-202 pubmed publisher
    Mutations in the human CDKL5 gene have been shown to cause infantile spasms, as well as Rett syndrome-like phenotype...
  66. Colville A, Iancu O, Oberbeck D, Darakjian P, Zheng C, Walter N, et al. Effects of selection for ethanol preference on gene expression in the nucleus accumbens of HS-CC mice. Genes Brain Behav. 2017;16:462-471 pubmed publisher
    ..network data showed a significant effect of selection on a large cluster of Ras GTPase-binding genes including Cdkl5, Cyfip1, Ndrg1, Sod1 and Stxbp5...
  67. Zhao Y, Zhang X, Bao X, Zhang Q, Zhang J, Cao G, et al. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Med Genet. 2014;15:24 pubmed publisher
    Mutations in the cyclin-dependent kinase-like 5 (CDKL5) (NM_003159.2) gene have been associated with early-onset epileptic encephalopathies or Hanefeld variants of RTT(Rett syndrome)...
  68. Mei D, Darra F, Barba C, Marini C, Fontana E, Chiti L, et al. Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. Epilepsia. 2014;55:1748-53 pubmed publisher
    Mutations involving the cyclin-dependent kinase-like 5 (CDKL5) gene cause an early onset epileptic encephalopathy (EE) with severe neurologic impairment and a skewed 12:1 female-to-male ratio...