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Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
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Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation.
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
PPP3CA Gene Mutations Cause a Severe Neurodevelopmental Disease and Seizures.
