A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
涉及DNM1外显子10a的复发性新生剪接位点变异通过显性负性机制导致发育性和癫痫性脑病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.11.002
Shridhar Parthasarathy ,Sarah McKeown Ruggiero ,Antoinette Gelot ,Fernanda C Soardi ,Bethânia F R Ribeiro ,Douglas E V Pires ,David B Ascher ,Alain Schmitt ,Caroline Rambaud ,Alfonso Represa ,Hongbo M 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 ,Sergio D J Pena ,Ingo Helbig ,Vishnu Anand Cuddapah
