Associated Papers
New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy.
Wang T et al.
Frontiers in Neuroscience, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Case report: A novel PPP3CA truncating mutation within the regulatory domain causes severe developmental and epileptic encephalopathy in a Chinese patient.
Li J et al.
Frontiers in Neurology, 2022
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam S et al.
Clinical Genetics, 2021
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz M et al.
European Journal of Human Genetics : Ejhg, 2019
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