The increased frequency of testing has led to STXBP1 variants being identified as one of the variants associated with neurological disorders. We describe genotype-phenotype correlations of three patients with STXBP1-associated developmental and epileptic encephalopathy that we observed. Our observations confirmed that...
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova et al.· Rossiyskiy Vestnik Perinatol...· 0 citations
Introduction
. Medulloblastoma is the most common malignant central nervous system tumor in children, representing a molecularly heterogeneous group of neoplasms (SHH, WNT, Group 3, Group 4 subtypes). Germline mutations in predisposition genes (PTCH1, SUFU, TP53, APC, BRCA2, PALB2, ELP1, GPR161) are identified in 5–...
T. I. Meshcheryakova, O. Zheludkova, T. V. Kozhanova et al.· Russian Journal of Pediatric...· 1 citation
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