This website provides information on patients with mutations in the PLCB1 gene, including clinical data, molecular data, management and research options.

Pathogenic variations in PLCB1 cause a very rare neurodevelopmental disorder characterized by early-onset developmental and epileptic encephalopathy, epileptic spasms, severe developmental delay or intellectual disability, hypotonia, and drug-resistant seizures.

Not all individuals with biallelic pathogenic variations in the PLCB1 gene have the same features. However, the phenotypic spectrum appears relatively narrow.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with pathogenic variations in the PLCB1 gene.

Cyril Mignot, MD, PhD, APHP Sorbonne Université, Département de Génétique, Paris, France, cyril.mignot@aphp.fr
Caroline Nava, MD, PhD, APHP Sorbonne Université, Département de Génétique, Paris, France, caroline.nava@aphp.fr