Assessing the impact of mono- and bi-allelic deletions in NRXN1 on synaptic function
Aïcha Massrali, Arkoprovo Paul, Rugilė Matulevičiūtė, Nicholas J. F. Gatford, Lucia Dutan Polit, Shekhar Kedia, Saifur Rahman, Deepak P. Srivastava, Mark Kotter, Deep Adhya, Simon Baron‐Cohen
This study compares mono- and bi-allelic NRXN1 mutations in iPSC-derived neurons, showing bi-allelic mutations cause more severe molecular, synaptic, and functional impairments.
bioRxiv · Feb 26, 2026 · PreprintNeuroscience