...TSC2 gene. We examined mutations of both TSC genes in 6 Japanese patients with TSC-LAM and 22 patients with sporadic LAM...
...TSC2 genes in a cohort of patients with chronic, focal epilepsy and histologically documented FCD(bc) (n = 48). DNA was ...
...TSC2 genes. While the development of seizures is ultimately related to mutations in one of the two genes, the mechanism ...
...Tsc2(+/+)) and mutant Eker rats (Tsc2(EK/+)), only TGHQ-treated Tsc2(EK/+) rats developed renal tumors, indicating that ...
...TSC2). Most de-novo patients show a mutation in TSC2, whereas only 50% of all familial cases can be related to TSC2 muta...
...TSC2/tuberin. Our analyses indicate that disease mutations show definite patterns when examined from an evolutionary per...
...TSC2. 75% of cases are sporadic. Most patients with TS have epilepsy. Infantile spasms are a frequent early manifestatio...
...TSC2 tumour suppressor genes are responsible for the disease. TSC1 and TSC2 encode two large novel proteins called hamar...
Critical functions of hamartin and tuberin, encoded by the TSC1 and TSC2 genes, are likely to be closely linked. The pro...
...Tsc2 were found to develop variable size and number of renal tumors. We hypothesize that "modifier" genes unlinked to Ts...
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