Article
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Clinical genetics - 1 Aug 2021
Panneerselvam Sugi, Wang Julia, Zhu Wenmiao, Dai Hongzheng, Pappas John G, Rabin Rachel, Low Karen J, Rosenfeld Jill A, Emrick Lisa, Xiao Rui, Xia Fan, Yang Yaping, Eng Christine M, Anderson Anne, Chau Vann, Soler-Alfonso Claudia, Streff Haley, Lalani Seema R, Mercimek-Andrews Saadet, Bi Weimin
Abstract excerpt
PPP3CA encodes the catalytic subunit of calcineurin, a calcium-calmodulin-regulated serine-threonine phosphatase. Loss-of-function (LoF) variants in the catalytic domain have been associated with epilepsy, while gain-of-function (GoF) variants in the auto-inhibitory domain cause multiple congenital abnormalities. We herein report five new patients with de novo PPP3CA variants. Interestingly, the two frameshift...
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