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Tuberös skleros

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Sakkunnig:
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  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  
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  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  
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  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  
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  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  
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  • Tor Ansved, docent och specialist, Neurology clinic, Sophiahemmet, Stockholm

Tidigare sakkunniga

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