Clinical trials and treatment prospects

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 8, Issue 2, 2002, Pages 106-111

  Percy, Alan K ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Betaine; Clinical trials; Folate; Naltrexone; Rett syndrome

Indexed keywords

BETAINE; CARBAMAZEPINE; CARNITINE; FOLIC ACID; LAMOTRIGINE; LANSOPRAZOLE; MACROGOL; MACROGOL 3350; NALOXONE; NALTREXONE; VALPROIC ACID;

ARTICLE; BEHAVIOR; BREATHING DISORDER; CLINICAL FEATURE; CLINICAL TRIAL; COGNITION; CPG ISLAND; DIARRHEA; DIET SUPPLEMENTATION; DRUG EFFICACY; ELECTROENCEPHALOGRAM; GASTROESOPHAGEAL REFLUX; GENE EXPRESSION; GENE MUTATION; HEALTH EDUCATION; HUMAN; KETOGENESIS; META ANALYSIS; MOBILIZATION; OUTCOMES RESEARCH; PRIORITY JOURNAL; RETT SYNDROME; SCOLIOSIS; SEIZURE; SIDE EFFECT; WAKEFULNESS;

CHROMOSOMAL PROTEINS, NON-HISTONE; CLINICAL TRIALS; DNA-BINDING PROTEINS; FEMALE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; PROGNOSIS; REPRESSOR PROTEINS; RETT SYNDROME; TREATMENT OUTCOME;

EID: 0036273645     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/mrdd.10022     Document Type: Article

References (62)

1. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG binding protein 2
3. Rett syndrome: Methyl CpG-binding protein 2 mutations and phenotype-genotype correlations
4. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
5. Diagnostic criteria for rett syndrome. The rett syndrome diagnostic criteria work froup
6. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
7. The incidence and natural history of scoliosis in Rett syndrome
8. MECP2 mutations account for most cases of typical forms of Rett syndrome
9. Gene number, noise reduction and biological complexity
10. A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
11. Possible hyperendorphinergic pathophysiology of the Rett syndrome
12. Rett syndrome: Habilitation and management reviewed
13. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms
14. Longread sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
15. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
16. Are somatic cells inherently deficient in methylation metabolism? A proposed mechanism for DNA methylation loss, senescence and aging
17. MECP2 is highly mutated in X-linked mental retardation
18. Rett syndrome: A surprising result of mutation in MECP2
19. Rett syndrome: Randomized controlled trial of L-carnitine
20. Rett syndrome and associated movement disorders
21. Rett's syndrome: Characterization of respiratory patterns and sleep
22. Effect of naloxone on breathing, hand movements, electroencephalogram during wakefulness in patients in rett syndrome
23. Rett syndrome: Characterization of seizures and non-seizures
24. Orthopaedic manifestations of Rett syndrome
25. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
26. Therapeutic effects of a ketogenic diet in Rett syndrome
27. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
28. Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls
29. Rett syndrome: Criteria for inclusion and exclusion
30. Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence
31. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome
32. Scoliosis in the Rett syndrome: Natural history and treatment
33. MeCP2 mutations in children with and without the phenotype of Rett syndrome
34. Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
35. Neuropathology of Rett syndrome
36. Epidemiology of Rett syndrome: A population-based registry
37. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
38. Scoliosis in rett syndrome. Clinical and biological aspects
39. Abnormal breathing in the rett syndrome
40. Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome
41. Altered energy balance may account for growth failure in Rett syndrome
42. Elevated CSF beta-endorphin immunoreactivity in Rett's syndrome: Report of 158 cases and comparison with leukemic children
43. MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
44. Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome
45. Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone
46. Genetics of Rett syndrome: Properties of the newly discovered gene and pathobiology of the disorder
47. L-carnitine as a treatment for Rett syndrome
48. Carnitinmangel und carnitintherapie bei einer patientin mit Rett-Syndrom
49. Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter
50. The pattern of growth failure in Rett syndrome
51. Hand and foot growth failure in Rett syndrome
52. Hyperventilation in the awake state: Potentially treatable component of Rett syndrome
53. Epilepsy in a representative series of Rett syndrome
54. Lamotrigine in Rett syndrome: Treatment experience from a pilot study
55. Lamotrigine in Rett syndrome
56. Methyl CpG-binding protein 2 mutations in Rett syndrome
57. Two affected boys in a rett syndrome family: Clinical and molecular findings
58. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
59. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
60. Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice
61. Mutation screening in Rett syndrome patients