PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.

ABSTRACT:

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 variants in PLPBP, including 3 novel variants, in a cohort of 700 patients with developmental and epileptic encephalopathies. Clinical information in each case was collected.

Results

Each patient had a different clinical course of epilepsy, with seizure onset from the first day of life to 3 months of age.

SUBMITTER: Shiraku H 

PROVIDER: S-EPMC6276781 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature