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Disease Ontology Term: early-onset vitamin B6-dependent epilepsy 1

DO ID
DOID:0080769
Description
An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11.
Synonyms
early-onset vitamin B6-dependent epilepsy, EPEO1, PDE-PLPBP
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Annotations

Manually Curated 4 entries for 1 gene

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GeneDisease Ontology TermQualifierEvidenceSourceAssigned OnReference
YBL036Cearly-onset vitamin B6-dependent epilepsy 1ISS with PLPBPSGD2022-03-08Johnstone DL, et al. (2019) PMID:30668673
YBL036Cearly-onset vitamin B6-dependent epilepsy 1IGI with PLPBPSGD2022-03-08Johnstone DL, et al. (2019) PMID:30668673
YBL036Cearly-onset vitamin B6-dependent epilepsy 1ISS with PLPBPSGD2023-07-24Ciapaite J, et al. (2023) PMID:37451483
YBL036Cearly-onset vitamin B6-dependent epilepsy 1IMPSGD2023-07-24Ciapaite J, et al. (2023) PMID:37451483
Showing 1 to 4 of 4 entries

High-throughput 0 entries for 0 genes

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Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference

Computational 0 entries for 0 genes

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Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference
central nervous system disease (1)