A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR, Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, et al. Am J Hum Genet. 2022 Dec 1; 109(12):2253-2269. Epub 2022 Nov 21.