Associated Papers
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
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
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 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
Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report.
Yang S et al.
Bmc Pediatrics, 2020
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
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT et al.
American Journal of Human Genetics, 2017
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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