PLCB1 and infantile epilepsy syndrome: Recently, homozygous deletions of chromosome 20p12.3, disrupting the promoter region and first three coding exons of PLCB1, have been described in individuals with EIEE.9,10 In this report, we describe a further case of PLCB1-EIEE, thereby expanding the genotypic and phenotypic disease spectrum of this genetic form of infantile epilepsy.