Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy
Roberta Castelli, Carla Marini, Alessandro Porro, Anna Castellini, Greta Fontana, Andrea Saponaro, Gianpiero L. Cavalleri, Susanna Rizzi, Carlo Fusco, Amitav Parida, Richard C. Caswell, Charlotte Sherlaw, Dario Pruna, Christopher A. Reid, Lauren E. Bleakley, , Anna Moroni
This study functionally classifies HCN1 variants in patients with neurodevelopmental disorders, finding genotype-phenotype correlations and potential therapeutic targets.
bioRxiv · Mar 20, 2026 · PreprintPathology