rett syndrome

Summary

Summary: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

Top Publications

  1. Voituron N, Zanella S, Menuet C, Lajard A, Dutschmann M, Hilaire G. Early abnormalities of post-sigh breathing in a mouse model of Rett syndrome. Respir Physiol Neurobiol. 2010;170:173-82 pubmed publisher
    b>Rett syndrome is a neurodevelopmental disease accompanied by complex, disabling symptoms, including breathing symptoms...
  2. 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
    ..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...
  3. Tarquinio D, Motil K, Hou W, Lee H, Glaze D, Skinner S, et al. Growth failure and outcome in Rett syndrome: specific growth references. Neurology. 2012;79:1653-61 pubmed publisher
    Prominent growth failure typifies Rett syndrome (RTT)...
  4. Riise R, Brox J, SORENSEN R, Skjeldal O. Spinal deformity and disability in patients with Rett syndrome. Dev Med Child Neurol. 2011;53:653-7 pubmed publisher
    b>Rett syndrome is a neurodevelopmental disorder starting in early childhood with devastating consequences both on the brain and on systemic neurons. Scoliosis is a common complication in most of these patients...
  5. Motil K, Barrish J, Lane J, Geerts S, Annese F, McNair L, et al. Vitamin D deficiency is prevalent in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr. 2011;53:569-74 pubmed publisher
    ..and the consumption of dietary sources of vitamin D or exposure to anticonvulsants in girls and women with Rett syndrome (RTT)...
  6. Maezawa I, Jin L. Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate. J Neurosci. 2010;30:5346-56 pubmed publisher
    MECP2, an X-linked gene encoding the epigenetic factor methyl-CpG-binding protein-2, is mutated in Rett syndrome (RTT) and aberrantly expressed in autism...
  7. Durand T, De Felice C, Signorini C, Oger C, Bultel Poncé V, Guy A, et al. F(2)-Dihomo-isoprostanes and brain white matter damage in stage 1 Rett syndrome. Biochimie. 2013;95:86-90 pubmed publisher
    Oxidative damage has been reported in Rett syndrome (RTT), a pervasive development disorder mainly caused up to 95% of cases by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene...
  8. Leonard H, Ravikumara M, Baikie G, Naseem N, Ellaway C, Percy A, et al. Assessment and management of nutrition and growth in Rett syndrome. J Pediatr Gastroenterol Nutr. 2013;57:451-60 pubmed publisher
    We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians.
  9. Kirby R, Lane J, Childers J, Skinner S, Annese F, Barrish J, et al. Longevity in Rett syndrome: analysis of the North American Database. J Pediatr. 2010;156:135-138.e1 pubmed publisher
    To determine longevity in Rett syndrome (RTT) from a large cohort.

Scientific Experts

More Information

Publications62

  1. Rajaei S, Erlandson A, Kyllerman M, Albage M, Lundstrom I, Karrstedt E, et al. Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis. J Child Neurol. 2011;26:65-71 pubmed publisher
    The early infantile onset ''congenital'' variant of Rett syndrome presents with deviations of behavior from very early infancy...
  2. Muotri A, Marchetto M, Coufal N, Oefner R, Yeo G, Nakashima K, et al. L1 retrotransposition in neurons is modulated by MeCP2. Nature. 2010;468:443-6 pubmed publisher
    ..cells derived from human induced pluripotent stem cells and human tissues, we revealed that patients with Rett syndrome (RTT), carrying MeCP2 mutations, have increased susceptibility for L1 retrotransposition...
  3. Zhu X, Li M, Pan H, Bao X, Zhang J, Wu X. Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China. J Child Neurol. 2010;25:842-8 pubmed publisher
    b>Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is caused by mutations in methyl-CpG-binding protein 2 gene...
  4. De Felice C, Ciccoli L, Leoncini S, Signorini C, Rossi M, Vannuccini L, et al. Systemic oxidative stress in classic Rett syndrome. Free Radic Biol Med. 2009;47:440-8 pubmed publisher
    b>Rett syndrome (RS), a progressive severe neurodevelopmental disorder mainly caused by de novo mutations in the X-chromosomal MeCP2 gene encoding the transcriptional regulator methyl-CpG-binding protein 2, is a leading cause of mental ..
  5. Nectoux J, Fichou Y, Rosas Vargas H, Cagnard N, Bahi Buisson N, Nusbaum P, et al. Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes. J Cell Mol Med. 2010;14:1962-74 pubmed publisher
    More than 90% of Rett syndrome (RTT) patients have heterozygous mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene that encodes the methyl-CpG-binding protein 2, a transcriptional modulator...
  6. Ananiev G, Williams E, Li H, Chang Q. Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model. PLoS ONE. 2011;6:e25255 pubmed publisher
    b>Rett syndrome (RTT) is an autism spectrum developmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene...
  7. Marschik P, Einspieler C, Sigafoos J. Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception. Res Dev Disabil. 2012;33:461-6 pubmed publisher
    To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing ..
  8. Ricciardi S, Boggio E, Grosso S, Lonetti G, Forlani G, Stefanelli G, et al. Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Hum Mol Genet. 2011;20:1182-96 pubmed publisher
    b>Rett syndrome (RTT) is a neurodevelopmental disorder with no efficient treatment that is caused in the majority of cases by mutations in the gene methyl-CpG binding-protein 2 (MECP2)...
  9. Downs J, Bebbington A, Kaufmann W, Leonard H. Longitudinal hand function in Rett syndrome. J Child Neurol. 2011;26:334-40 pubmed publisher
    Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database...
  10. Gibson J, Slobedman B, K N H, Williamson S, Minchenko D, El Osta A, et al. Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. BMC Neurosci. 2010;11:53 pubmed publisher
    The Rett Syndrome (RTT) brain displays regional histopathology and volumetric reduction, with frontal cortex showing such abnormalities, whereas the occipital cortex is relatively less affected.
  11. 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
    b>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.
  12. Zachariah R, Rastegar M. Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research. Neural Plast. 2012;2012:415825 pubmed publisher
    ..and human disease is the X-linked MECP2 gene, mutations in which lead to the neurological disorder, Rett Syndrome. Despite the fact that MeCP2 was discovered about 20 years ago, our current knowledge about its molecular ..
  13. 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
    b>Rett syndrome (RTT) is a progressive neurologic disorder representing one of the most common causes of mental retardation in females. To date mutations in three genes have been associated with this condition...
  14. Johnson R, Lam M, Punzo A, Li H, Lin B, Ye K, et al. 7,8-dihydroxyflavone exhibits therapeutic efficacy in a mouse model of Rett syndrome. J Appl Physiol (1985). 2012;112:704-10 pubmed publisher
    b>Rett syndrome (RTT), caused by mutations in the methyl-CpG binding protein 2 gene (MECP2), is a debilitating autism spectrum developmental disorder predominantly affecting females...
  15. Saunders C, Minassian B, Chow E, Zhao W, Vincent J. Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. Am J Med Genet A. 2009;149A:1019-23 pubmed publisher
    b>Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene...
  16. Khwaja O, Ho E, Barnes K, O Leary H, Pereira L, Finkelstein Y, et al. Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome. Proc Natl Acad Sci U S A. 2014;111:4596-601 pubmed publisher
    b>Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder mainly affecting females and is associated with mutations in MECP2, the gene encoding methyl CpG-binding protein 2...
  17. Goldman S, Temudo T. Hand stereotypies distinguish Rett syndrome from autism disorder. Mov Disord. 2012;27:1060-2 pubmed publisher
    b>Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies...
  18. Grosser E, Hirt U, Janc O, Menzfeld C, Fischer M, Kempkes B, et al. Oxidative burden and mitochondrial dysfunction in a mouse model of Rett syndrome. Neurobiol Dis. 2012;48:102-14 pubmed publisher
    b>Rett syndrome is an X chromosome-linked neurodevelopmental disorder associated with cognitive impairment, motor dysfunction and breathing irregularities causing intermittent hypoxia...
  19. Downs J, Bergman A, Carter P, Anderson A, Palmer G, Roye D, et al. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa 1976). 2009;34:E607-17 pubmed publisher
    ..Modified Delphi technique...
  20. Rastegar M, Hotta A, Pasceri P, Makarem M, Cheung A, Elliott S, et al. MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy. PLoS ONE. 2009;4:e6810 pubmed publisher
    b>Rett Syndrome (RTT) is an Autism Spectrum Disorder and the leading cause of mental retardation in females. RTT is caused by mutations in the Methyl CpG-Binding Protein-2 (MECP2) gene and has no treatment...
  21. Bao X, Downs J, Wong K, Williams S, Leonard H. Using a large international sample to investigate epilepsy in Rett syndrome. Dev Med Child Neurol. 2013;55:553-8 pubmed publisher
    The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
  22. Weng S, McLeod F, Bailey M, Cobb S. Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal. Neuroscience. 2011;180:314-21 pubmed publisher
    b>Rett syndrome (RTT), a disorder caused almost exclusively by mutations in the X-linked gene, MECP2, has a phenotype thought to be primarily of neurological origin. Disruption of Mecp2 in mice results in a prominent RTT-like phenotype...
  23. Brendel C, Belakhov V, Werner H, Wegener E, Gartner J, Nudelman I, et al. Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model. J Mol Med (Berl). 2011;89:389-98 pubmed publisher
    Thirty-five percent of patients with Rett syndrome carry nonsense mutations in the MECP2 gene...
  24. Bahi Buisson N, Nectoux J, Girard B, Van Esch H, de Ravel T, Boddaert N, et al. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics. 2010;11:241-9 pubmed publisher
    ..Recently, the FOXG1 gene was implicated in the molecular aetiology of the congenital variant of Rett syndrome. So far, 15 FOXG1 molecular alterations, including only eight point mutations, have been reported...
  25. De Felice C, Signorini C, Durand T, Oger C, Guy A, Bultel Poncé V, et al. F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome. J Lipid Res. 2011;52:2287-97 pubmed publisher
    Oxidative damage has been reported in Rett syndrome (RTT), a pervasive developmental disorder caused in up to 95% of cases by mutations in the X-linked methyl-CpG binding protein 2 gene...
  26. Downs J, Géranton S, Bebbington A, Jacoby P, Bahi Buisson N, Ravine D, et al. Linking MECP2 and pain sensitivity: the example of Rett syndrome. Am J Med Genet A. 2010;152A:1197-205 pubmed publisher
    ..This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations...
  27. Wulffaert J, Van Berckelaer Onnes I, Scholte E. Autistic disorder symptoms in Rett syndrome. Autism. 2009;13:567-81 pubmed publisher
    ..the major classification systems it is not possible to diagnose a comorbid autistic disorder in persons with Rett syndrome. However, this is a controversial issue, and given the level of functioning of persons with Rett syndrome, the ..
  28. Neul J. The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues Clin Neurosci. 2012;14:253-62 pubmed
    b>Rett syndrome (RTT, MIM#312750) is a neurodevelopmental disorder that is classified as an autism spectrum disorder...
  29. De Filippis B, Ricceri L, Laviola G. Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome. Genes Brain Behav. 2010;9:213-23 pubmed publisher
    In a mouse model of Rett syndrome (RTT) which expresses a truncated form of methyl-CpG-binding protein 2 (Mecp2) gene (Mecp2-308), we performed a neurobehavioral evaluation across the life span, starting from soon after birth till ..
  30. Durand S, Patrizi A, Quast K, Hachigian L, Pavlyuk R, Saxena A, et al. NMDA receptor regulation prevents regression of visual cortical function in the absence of Mecp2. Neuron. 2012;76:1078-90 pubmed publisher
    ..Thus, vision is a sensitive biomarker of progressive cortical dysfunction and may guide novel, circuit-based therapies for Mecp2 deficiency...
  31. Deogracias R, Yazdani M, Dekkers M, Guy J, Ionescu M, Vogt K, et al. Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2012;109:14230-5 pubmed publisher
    ..Mice lacking Mecp2, a gene frequently mutated in Rett syndrome, show decreased levels of BDNF, and fingolimod administration was found to partially rescue these levels as ..
  32. Marschik P, Sigafoos J, Kaufmann W, Wolin T, Talisa V, Bartl Pokorny K, et al. Peculiarities in the gestural repertoire: an early marker for Rett syndrome?. Res Dev Disabil. 2012;33:1715-21 pubmed publisher
    We studied the gestures used by children with classic Rett syndrome (RTT) to provide evidence as to how this essential aspect of communicative functions develops...
  33. 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
    ..been described in epileptic encephalopathies in females with infantile spasms with features that overlap with Rett syndrome. With more than 80 reported patients, the phenotype of CDKL5-related encephalopathy is well-defined...
  34. Signorini C, De Felice C, Durand T, Oger C, Galano J, Leoncini S, et al. Isoprostanes and 4-hydroxy-2-nonenal: markers or mediators of disease? Focus on Rett syndrome as a model of autism spectrum disorder. Oxid Med Cell Longev. 2013;2013:343824 pubmed publisher
    ..fatty acids precursors, are strictly related to the clinical manifestations and the natural history of Rett syndrome, a genetically determined neurodevelopmental pathology, currently classified among the autism spectrum ..
  35. 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
    b>Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting females almost exclusively and is characterized by a wide spectrum of clinical manifestations...
  36. Gonzales M, LaSalle J. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010;12:127-34 pubmed publisher
    Methyl CpG binding protein-2 (MeCP2) is an essential epigenetic regulator in human brain development. Rett syndrome, the primary disorder caused by mutations in the X-linked MECP2 gene, is characterized by a period of cognitive decline ..
  37. Hara M, Nishi Y, Yamashita Y, Yoh J, Takahashi S, Nagamitsu S, et al. Ghrelin levels are reduced in Rett syndrome patients with eating difficulties. Int J Dev Neurosci. 2011;29:899-902 pubmed publisher
    Most patients with Rett syndrome (RTT) have both gastrointestinal problems and somatic growth failure, including microcephaly...
  38. Lotan M, Reves Siesel R, Eliav Shalev R, Merrick J. Osteoporosis in Rett syndrome: a case study presenting a novel management intervention for severe osteoporosis. Osteoporos Int. 2013;24:3059-63 pubmed publisher
    The present article describes a successful novel therapeutic intervention with Aredia with one child with Rett syndrome, after suffering from six pathological fractures within less than 3 years due to severe osteoporosis...
  39. Wu H, Tao J, Chen P, Shahab A, Ge W, Hart R, et al. Genome-wide analysis reveals methyl-CpG-binding protein 2-dependent regulation of microRNAs in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2010;107:18161-6 pubmed publisher
    ..b>Rett syndrome (RTT) is a progressive neurodevelopmental disorder caused by mutations in the gene encoding methyl-CpG-binding ..
  40. Li W, Pozzo Miller L. BDNF deregulation in Rett syndrome. Neuropharmacology. 2014;76 Pt C:737-46 pubmed publisher
    ..In this review, we focus on a prevalent neurodevelopmental disorder, Rett syndrome (RTT), which afflicts 1:15,000 women world-wide...
  41. Foley K, Downs J, Bebbington A, Jacoby P, Girdler S, Kaufmann W, et al. Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period. J Child Neurol. 2011;26:1237-45 pubmed publisher
    b>Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene...
  42. Derecki N, Cronk J, Kipnis J. The role of microglia in brain maintenance: implications for Rett syndrome. Trends Immunol. 2013;34:144-50 pubmed publisher
    ..identified a new and unexpected role for microglial phagocytosis - or lack thereof - in the pathophysiology of Rett syndrome, a neurodevelopmental disease caused by mutation of the gene encoding methyl-CpG binding protein (MECP)2...
  43. Mellén M, Ayata P, Dewell S, Kriaucionis S, Heintz N. MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system. Cell. 2012;151:1417-30 pubmed publisher
    ..These findings support a model in which 5hmC and MeCP2 constitute a cell-specific epigenetic mechanism for regulation of chromatin structure and gene expression...
  44. d Orsi G, Trivisano M, Luisi C, Demaio V, Di Claudio M, Pascarella M, et al. Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy. Epilepsy Behav. 2012;25:401-7 pubmed publisher
    Epileptic seizures, movement disorders and breathing disturbances may be observed in Rett syndrome, and correct diagnosis is mandatory for the management...
  45. Armani R, Archer H, Clarke A, Vasudevan P, Zweier C, Ho G, et al. Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome. Am J Med Genet A. 2012;158A:713-9 pubmed publisher
    The systematic screening of Rett syndrome (RTT) patients for pathogenetic sequence variations has focused on three genes that have been associated with RTT or related clinical phenotypes, namely MECP2, CDKL5, and FOXG1...
  46. Hagebeuk E, Bijlmer R, Koelman J, Poll The B. Respiratory disturbances in rett syndrome: don't forget to evaluate upper airway obstruction. J Child Neurol. 2012;27:888-92 pubmed publisher
    b>Rett syndrome is characterized by loss of motor and social functions, development of stereotypic hand movements, seizures, and breathing disturbances. This study evaluates the presence of overnight respiratory disturbances...
  47. Neul J, Kaufmann W, Glaze D, Christodoulou J, Clarke A, Bahi Buisson N, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944-50 pubmed publisher
    b>Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2)...
  48. Hansen J, Ghosh R, Woodcock C. Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin. IUBMB Life. 2010;62:732-8 pubmed publisher
    ..Much attention has been focused on understanding MeCP2 structure and function in the context of its role in Rett syndrome, a severe neurodevelopmental disorder that afflicts one in 10,000-15,000 girls...
  49. Santos M, Summavielle T, Teixeira Castro A, Silva Fernandes A, Duarte Silva S, Marques F, et al. Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome. Neuroscience. 2010;170:453-67 pubmed publisher
    b>Rett syndrome is a neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 gene (MECP2)...
  50. Kline D, Ogier M, Kunze D, Katz D. Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice. J Neurosci. 2010;30:5303-10 pubmed publisher
    Postnatal deficits in brain-derived neurotrophic factor (BDNF) are thought to contribute to pathogenesis of Rett syndrome (RTT), a progressive neurodevelopmental disorder caused by mutations in the gene encoding methyl-CpG-binding ..
  51. Jacob F, Ramaswamy V, Andersen J, Bolduc F. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Eur J Hum Genet. 2009;17:1577-81 pubmed publisher
    b>Rett syndrome is a severe neurodegenerative disorder characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements...
  52. 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
    Classic Rett Syndrome (RS) is a neurodevelopmental disorder due to mutations in the MECP2 gene in Xq28...
  53. Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, et al. Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. J Hum Genet. 2011;56:183-7 pubmed publisher
    b>Rett syndrome (RTT) is characterized by a relatively specific clinical phenotype. We screened 152 individuals with RTT phenotype. A total of 22 different known MECP2 mutations were identified in 42 subjects (27.6%)...