Fig. 2From: Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case reportThe mutation spectrum of PPP3CA. All recorded disease-causing mutations in HGMD database. The gain-of-function missense mutations, loss-of-function missense mutations and nonsense/frameshift mutations were marked separately. The frameshift mutation in our study was marked in redBack to article page