...TSC1 and TSC2. 75% of cases are sporadic. Most patients with TS have epilepsy. Infantile spasms are a frequent early man...
...TSC1 or TSC2 gene or even the site of tubers in the brain.
...TSC1, KIAA1549). Tumor mutation burden was consistently low, with CDKN2A homozygous deletion being the only recurrent se...
...TSC1). The pathogenic relevance of these variants remains uncertain, particularly in the absence of functional validatio...
...Tsc1 or Tsc2, whose gene products inhibit the small G-protein Rheb1. Rheb1 activates mTORC1, which may cause refractory ...
...TSC1 mutation, and one tumor showed 2-copy deletion of CDKN2A, CDKN2B, and MTAP. No biologically significant variants we...
...TSC1), important innate immunity regulators. Patients with NA were characterized by increased proinflammatory IL-1β leve...
...TSC1/TSC2 genes. Remarkably, the child's remaining bilateral multifocal renal neoplasms completely responded to MTOR inh...
...TSC1, TSC2, MECP2, DEPDC5, HUWE1, GRIN1, ASH1I, TRIO, KIF5C, CDON, ANKD11, TGFBR2, ATN1, COL4A1, JAK2, KCNQ2, ATP1A2, an...
...TSC1/2), emerging risk genes (CHD8, SCN2A, SYNGAP1, ARID1B, GRIN2B, DSCAM, TBR1), and copy number variants (15q11-q13 de...
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