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Tuberös skleros

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Sakkunnig:

  1. Roach ES, Gomez MR, Northrup H: Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-8. PubMed  
  2. Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol 2000; 57: 662-5. PubMed  
  3. O'Callaghan FJ, Shiell AW, Osborne JP et al. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet 1998; 351: 1490. PubMed  
  4. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372: 657-68. PubMed  
  5. Crino PB, Henske EP: New developments in the neurobiology of the tuberous sclerosis complex. Neurology 1999; 53: 1384-90. Neurology  
  6. Langkau N, Martin N, Brandt R, Zugge K, Quast S. TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. Eur J Pediatr 2002; 161: 393-402. PubMed  
  7. Van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277: 805-808. PubMed  
  8. Povey S, Burley M, Attwood J, et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet 1994; 58: 107-127. PubMed  
  9. Consortium ECTS. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-1315. PubMed  
  10. Dabora SL, Jozwiak S, Franz DN, et al: Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68: 64-80. PubMed  
  11. Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68: 64-80. PubMed  
  12. Van Slegtenhorst M, Nellist M, Nagelkerken B, et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 1998; 7: 1053-1057. PubMed  
  13. Roach ES, DiMario FJ, Kandt RS, Northrup H: Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 1999; 14: 401-7. PubMed  
  14. DiMario F. Brain abnormalities in tuberous sclerosis. J Child Neurol 2004; 19: 650-7. PubMed  
  15. Thiele E. Managing epilepsy in tuberous sclerosis complex. J Child Neurol 2004; 19: 680-6. PubMed  
  16. Joinson C, O'Callaghan F, Osborne J et al. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 2003; 32: 335-44. PubMed  
  17. de Vries P, Humphrey A, McCartney D et al. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. Eur Child Adolesc Psychiatry 2005; 14: 183-90. PubMed  
  18. Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004; 19: 643-9. PubMed  
  19. O'Hagan AR, Ellsworth R, Secic M, Rothner AD, Brouhard BH. Renal manifestations of tuberous sclerosis complex. Clin Pediatr (Phila) 1996; 35: 483-9. PubMed  
  20. Koenig MK, Bell CS, Hebert AA, et al. Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex The TREATMENT Randomized Clinical Trial. JAMA Dermatol 2018. doi:10.1001/jamadermatol.2018.0464 DOI  
  21. Joinson C, O´Callaghan FJ, Osborne JP et al. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 2003; 33: 335-44. PubMed  
  22. Winterkorn EB, Pulsifer MB, Thiele EA. Cognitive prognosis of patients with tuberous sclerosis comlex. Neurology 2007; 68: 62-4. Neurology  
  23. O'Callaghan FJK, Harris T, Joinson C et al. The relation of infantile spasms, tubers and intelligence in tuberous sclerosis complex. Arch Dis Child 2004; 89: 530-3. PubMed  
  24. Jones AC, Shyamsundar M, Thomas MW et al. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 Families with tuberous sclerosis. Am J Hum Genet 1999; 64: 1305-15. PubMed  
  • Tor Ansved, docent och specialist, Neurology clinic, Sophiahemmet, Stockholm

Tidigare sakkunniga

  • Bjørnar Grenne, ST-läkare och PhD, Sørlandet Sykehus Arendal