Hydrocephalus Paper of the Month July 2024
We are pleased to present this month’s interesting study, “A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus” authored by:
Amrita K Singh, Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma, Shujuan Zhao, Kedous Y Mekbib, John P Shohfi, Phan Q Duy, Tyrone DeSpenza Jr, Charuta G Furey, Benjamin C Reeves, Hannah Smith, Andre M M Sousa, Adriana Cherskov, August Alloco, Carol Nelson-Williams, Shozeb Haider, Syed R A Rizvi, Seth L Alper, Nenad Sestan, Hermela Shimelis, Lauren K Walsh, Richard P Lifton, Andres Moreno-De-Luca, Sheng Chih Jin, Paul Kruszka, Engin Deniz and Kristopher T Kahle
This study from Harvard and Yale Universities suggests that SMARCC1 variants lead to congenital hydrocephalus by altering the epigenetic regulation of gene expression of neural progenitor cell proliferation. These findings have the potential to improve the prognosis and treatment of affected children.
Read the Full Paper here: https://pubmed.ncbi.nlm.nih.gov/38128548/