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, Xie HM, Lusk L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA.
Parthasarathy S, et al. Among authors: rambaud c.
Am J Hum Genet. 2022 Dec 1;109(12):2253-2269. doi: 10.1016/j.ajhg.2022.11.002. Epub 2022 Nov 21.
Am J Hum Genet. 2022.
PMID: 36413998
Free PMC article.