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Nikita Budnik

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Articles

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

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By Tao Zhang, Xu Cao, Erkin Kurganov, Lei Cui, Siwei Chen, Erick Olivares, David Baez-Nieto, Ahmet S. Asan, Laina G. Lusk, Lacey Smith Verified, Sooyeon Jo, Diogo Marques, Ralda Nehme, Sureni V. Mullegama, Amanda Lindy, Alfred L George, Annapurna Poduri, Ingo Helbig, Nikita Budnik
| Science Magazine Verified
Editor’s summary Point mutations in the gene encoding the CaV2.1 voltage–gated calcium channel are linked to a range of neurodevelopmental disorders. Here, Kurganov et al. performed patch-clamp recordings on cell models expressing 42 de novo CACNA1A missense variants and used a computational model to characterize how channel dysfunctions caused by these mutations affect neuronal activity.
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