Ontology highlight
ABSTRACT:
SUBMITTER: Johannsen J
PROVIDER: S-EPMC6824897 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Johannsen Jessika J Bierhals Tatjana T Deindl Philipp P Hecher Laura L Hermann Katharina K Hempel Maja M Kloth Katja K Denecke Jonas J
Journal of pediatric genetics 20190420 4
Recently, mutations in the <i>PLPBP</i> gene were described as a novel cause for vitamin B6-responsive epilepsy. We report the outcome in case of a male adolescent with a novel homozygous missense variant in <i>PLPBP</i> who was never treated with pyridoxine until the age of 16 years. He presented with only mild cognitive impairment and an early-onset, well-controlled epilepsy. In our patient, excessive seizure clusters and anxiety states occurred intermittently, suggesting that the combination ...[more]