Publications by authors named "Ielyzaveta Rabkina"
Article Synopsis
- Genetic changes affecting a protein called HNRNPU are found in several brain disorders in kids.
- HNRNPU is important for the brain's growth, especially in the part called the cerebellum, but we don’t know how it affects this area yet.
- Researchers found that when HNRNPU is missing, it changes how brain cells develop, which might connect to issues like epilepsy, autism, and learning challenges.
CASK-related disorders are genetically defined neurodevelopmental syndromes. There is limited information about the effects of CASK mutations in human neurons. Therefore, we sought to delineate CASK-mutation consequences and neuronal effects using induced pluripotent stem cell-derived neurons from two mutation carriers.
View Article and Find Full Text PDFChallenges in social communication and interaction are core features of autism spectrum disorder (ASD) for which social skills group training (SSGT) is a commonly used intervention. SSGT has shown modest and heterogeneous effects. One of the major genetic risk factors in ASD is rare copy number variation (CNV).
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