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The excitability of neurons is tightly dependent on their ion channel repertoire, with the leak sodium channel NALCN playing a key role in maintaining resting membrane potential and regulating electrical activity. Studies in animal models highlight NALCN’s involvement in essential functions such as respiratory and circadian rhythms, sleep, locomotion, and pain perception. Increasing evidence links NALCN dysfunction to severe neurodevelopmental disorders, characterized by a large panel of symptoms that include developmental delay, facial dysmorphisms, seizures, and premature death. Currently, no therapies exist for these patients. Our research addresses this gap by identifying therapeutic options through innovative in vitro and in vivo models of NALCN-related diseases. I will present recent findings on patient phenotypes, the functional impact of pathogenic variants, and the discovery of molecules that modulate NALCN activity. This work is made possible through close collaboration with researchers, clinicians, and patient families worldwide.