Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.
Mao-Qiang TianJing ChenJuan LiHong PanWenting LeiXiaomei ShuPublished in: BMC pediatrics (2022)
This is the first study to document developmental and epileptic encephalopathy with PNKD in a human with PIGN mutations. This report expanded our understanding of the genotype-phenotype correlation of PIGN, and PIGN may be considered a potentially relevant gene when investigating cases of epilepsy or PNKD.