Open access

Cross-species analysis of GNB1 I80T encephalopathy: conserved developmental, epileptic and neuronal transcriptome signatures

Haritha P. Reddy Vigneshwar Ranjan Merav Klo G. Shapira H. Bassan Gilad Harel G. Heimer B. Ben Zeev Tatiana Rabinski G. Vatine Yakey Yaffe B. Maoz L. Bikovski N. Shomron D. Yakubovich M. Rubinstein Nathan Dascal

Aug 2026 · bioRxiv · 1 citation · 64 references

Biology

TL;DR

The integrated analysis establishes the first cross-species model for GNB1E, suggests common neurological mechanisms and molecular pathways linked to GNB1E, and provides a framework for mechanistic and therapeutic studies.

DOI Semantic Scholar

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