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PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy
OBJECTIVE: Vitamin B(6)–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 B(6)–dependent epilepsies. Our objective was to furt...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276781/ https://www.ncbi.nlm.nih.gov/pubmed/30525118 http://dx.doi.org/10.1002/epi4.12272 |