De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases. This success has been particularly remarkable in the severe epilepsies and other neurodevelopmental diseases for which rare, often de novo, mutations play a significant role in disease risk. Despite significant progress, the high genetic heterogeneity of these disorders often requires large sample sizes to identify a critical mass of individuals with disease-causing mutations in a single gene.

Source: The American Journal of Human Genetics - September 21, 2017 Category: Genetics & Stem Cells Authors: Candace T. Myers, Nicholas Stong, Emily I. Mountier, Katherine L. Helbig, Saskia Freytag, Joseph E. Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N. Shinde, Arezoo Rezazadeh, Brigid M. Regan, Karen L. Oliver, Michelle Tags: Article Source Type: research