A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

Shridhar Parthasarathy, Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires, David B. Ascher, Alain Schmitt, Caroline Rambaud, Alfonso Represa, Hongbo Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R. Pierce, Boris Keren, Benjamin C Kennedy, Sérgio D.J. Pena, Ingo Helbig, Vishnu Anand Cuddapah