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• W3022388051 abstract "This chapter discusses various aspects of tuberose sclerosis (TS). TS or Tuberose Sclerosis complex (TSC) is a congenital hamartosis affecting many organ systems in the body, including the nervous system. Approximately one-third to one-half of TS cases are familial, exhibiting an autosomal dominant pattern of inheritance. Somatic TSC2 mutations have been identified in TSC-associated tumors, supporting the hypothesis that TSC2 functions as a tumor suppressor gene. The TSC2 gene encodes a 5.5-kb transcript that is expressed in various tissues, namely the brain, kidney, and fibroblasts. It is found that on long-term follow-up, 70% of children with TS and seizures go on to develop complex partial or secondary generalized tonic-clonic seizures. The prenatal diagnosis or diagnosis of TS in asymptomatic individuals can only be attempted in families large enough to independently demonstrate linkage to one of two loci on chromosome 9 or 16. It is suggested that both parents of a child who has TS should be examined for evidence of the disease including a complete physical examination, examination under Wood's lamp, dilated eye examination, MRI scan of the head, and renal ultrasound." @default.
• W3022388051 created "2020-05-13" @default.
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• W3022388051 date "1999-01-01" @default.
• W3022388051 modified "2023-09-25" @default.
• W3022388051 title "Tuberose Sclerosis" @default.
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• W3022388051 doi "https://doi.org/10.1016/b978-012422150-5/50010-x" @default.
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