Associated Papers
New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy.
Wang T et al.
Frontiers in Neuroscience, 2025
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.
Castiglioni S et al.
Orphanet Journal of Rare Diseases, 2024
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
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
Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation.
Qian Y et al.
Cold Spring Harbor Molecular Case Studies, 2018
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