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PLCB1encodes phospholipase C beta 1, an enzyme strongly expressed in the brain and involved in intracellular signal transduction. Biallelic loss-of-function variants in PLCB1cause an extremely rare early infantile epileptic encephalopathy / developmental and epileptic encephalopathy. Reported patients typically present in infancy, often between 3 and 5 months of age, with epileptic spasms or other seizure types, developmental arrest or regression, and subsequent profound developmental impairment. The disorder is rare, with only a small number of published patients worldwide.