Li J et al. Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation. Gene. 2019;700:168-75. PMID: 30904718.
Myers CT et al. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017;101(4):516-24. PMID: 28942967.
Mizuguchi T et al. Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Hum Mol Genet. 2018;27(8):1421-33. PMID: 29432562.
Panneerselvam S et al. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021;100(2):227-33. PMID: 33963760.
Qian Y et al. Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation. Cold Spring Harb Mol Case Stud. 2018;4(6):a002949. PMID: 30455226.
Rydzanicz M et al. Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression. Eur J Hum Genet. 2019;27(1):61-9. PMID: 30254215.
Yang S et al. Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: A case report. BMC Pediatr. 2020;20(1):315. PMID: 32593294.
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