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Author

T. I. Mescheryakova

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Open access Oct 2026

STXBP1-associated developmental and epileptic encephalopathy type 4

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. · 0 citations

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