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
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P et al.
Frontiers in Cell and Developmental Biology, 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
Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation.
Qian Y et al.
Cold Spring Harbor Molecular Case Studies, 2018
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T et al.
Human Molecular Genetics, 2018
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