Publication: Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons
Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons
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Asadollahi, R., Delvendahl, I., Muff, R., Tan, G., Rodríguez, D. G., Turan, S., Russo, M., Oneda, B., Joset, P., Boonsawat, P., Masood, R., Mocera, M., Ivanovski, I., Baumer Wolz, A., Bachmann-Gagescu, R., Schlapbach, R., Rehrauer, H., Steindl, K., Begemann, A., … Rauch, A. (2023). Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics, 32, 2192–2204. https://doi.org/10.1093/hmg/ddad048
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Abstract
Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel NaV1.2, cause different types of epilepsy or intellectual disability (ID)/autism without seizures. Previous studies using mouse models or heterologous systems suggest that NaV1.2 channel gain-of-function typically causes epilepsy, whereas loss-of-function leads to ID/autism. How altered channel biophysics translate into patient neurons remains unknown. Here, we investigated iPSC-derived early-stage cortical neurons from ID patients harboring diverse p
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Asadollahi, R., Delvendahl, I., Muff, R., Tan, G., Rodríguez, D. G., Turan, S., Russo, M., Oneda, B., Joset, P., Boonsawat, P., Masood, R., Mocera, M., Ivanovski, I., Baumer Wolz, A., Bachmann-Gagescu, R., Schlapbach, R., Rehrauer, H., Steindl, K., Begemann, A., … Rauch, A. (2023). Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics, 32, 2192–2204. https://doi.org/10.1093/hmg/ddad048
