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Article

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

25 Sept 2018

Abstract excerpt

Summary Objective Vitamin B6–dependent epilepsies are treatable disorders caused by variants in several genes, such as ALDH7A1, PNPO, and others. Recently, biallelic variants in PLPBP, formerly known as PROSC, were identified as a novel cause of vitamin B6–dependent epilepsies. Our objective was to further delineate the phenotype of PLPBP mutation. Methods We identified 4 unrelated patients harboring a total of 4...

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PMID: 30525118
DOI: 10.1002/epi4.12272

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