ObjectiveTo investigate the relationship between PIGA gene mutation and early-onset epileptic encephalopathy (EOEE).MethodsThe clinical materials of a EOEE children with PIGA gene mutation who admitted to Guangdong Sanjiu Brain Hosipital Epilepsy Pediatric in March 2016 were retrospectively analyzed. The databases of Wanfang, CNKI and PubMed were also reviewed to give a summary.ResultsThe child’s onset age was before 1-year-old, who has a family history of epilepsy. Electrophysiological and clinical diagnosis were EOEE, auxiliary examination of genetic metabolism, urine organic acids, blood biochemistry and other tests showed no abnormalities. Epilepsy gene detection found that PIGA gene has a new missense mutation, in line with the X-linked inheritance. The mutations leading to EOEE has been reported in foreign literature, but rarely reported in China.ConclusionThe new mutations of X-linked PIGA gene are more likely to be the causative genes of some.
