Author

N. Skryabin

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Open access Oct 2026

Novel Genetic Variants of the CHD2 Gene in cis Position in a Patient with Epileptic Encephalopathy: A Case Report and In Silico Analysis of the Impact of the Variants on the Protein

CHD2-related neurodevelopmental disorders are increasingly recognized as a distinct group of epileptic encephalopathies with heterogeneous clinical manifestations. Here, we report a 12-year-old female patient with pharmacoresistant epilepsy, mild cognitive impairment (IQ = 56), and extraneurological features including...

A. Zuev, E. Fonova, D. S. Kuznetsova et al. · International Journal of Mol... · 0 citations

Open access Jul 2026

A novel variant of NF1 gene in a patient with neurofibromatosis type 1: a case report

Wholegenome sequencing identified a new pathogenic variant in the NF1 gene associated with the development of neurofibromatosis type 1, which can be used in medical genetic counseling, as well as in algorithms for molecular genetic diagnostics of patients with suspected neurofibromatosis type 1.

I. Z. Zhalsanova, E. Fonova, D. N. Erburova et al. · Siberian journal of oncology · 0 citations