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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

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1 Published in 2017 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2017.08.013

Abstract: 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,… read more here.

Keywords: mutations ppp3ca; novo mutations; disease; cause severe ... See more keywords