Recently Published Research & Papers

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation.

PPP3CA gene-related developmental and epileptic encephalopathy: Expanding the electro-clinical phenotype.

Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report.

Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.

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New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.

PPP3CA Gene Mutations Cause a Severe Neurodevelopmental Disease and Seizures.

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India.

The clinical missense variant E282K in PPP3CA/calcineurin shifts substrate dephosphorylation by altering active site recruitment.