@misc{indiciaeca386fd9f0d0, title = {A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism}, author = {Parthasarathy, S. and Ruggiero, S. M. and Gelot, A. and Soardi, F. C. and Ribeiro, B. F. and Pires, D. E. and Ascher, D. B. and Schmitt, A. and Rambaud, C. and Xie, H. M. and Lusk, L. and Wilmarth, O. and McDonnell, P. P. and Juarez, O. A. and Grace, A. N. and Buratti, J. and Mignot, C. and Gras, D. and Nava, C. and Pierce, S. R. and Keren, B. and Kennedy, B. C. and Pena, S. D. and Helbig, I. and Cuddapah, V. A.}, year = {2022}, doi = {10.1101/2022.06.02.492389}, url = {https://www.biorxiv.org/content/10.1101/2022.06.02.492389v1}, note = {Source identifier: 10.1101/2022.06.02.492389} }