PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum

摘要

Background: Biallelic loss-of-function mutations of phospholipase C-beta 1 (PLCB1) have been described in three children with an early onset epileptic encephalopathy (EE). In two of them a homozygous deletion of the promotor and first three coding exons was found. The third patient had an almost identical heterozygous deletion in combination with a heterozygous splice site variant. All patients had intractable epilepsy and a severe developmental delay.