Article
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
Clinical genetics - 1 Mar 2020
Desprairies Camille, Valence Stéphanie, Maurey Hélène, Helal Suzette I, Weckhuysen Sarah, Soliman Hala, Mefford Heather C, Spentchian Myrtille, Héron Delphine, Leguern Eric, Nava Caroline, Bouilleret Viviane, Moretti Raffaella, Mignot Cyril
Abstract excerpt
Biallelic mutations in the PLCB1 gene, encoding for a phospholipase C beta isoform strongly expressed in the brain, have been reported to cause infantile epileptic encephalopathy in only four children to date. We report here three additional patients to delineate the phenotypic and genotypic characteristics of the disease. Our three patients were one sporadic case with an intragenic homozygous deletion and two...
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