OBO ID: DOID:0080769 |
Term Name: | early-onset vitamin B6-dependent epilepsy 1 | Search Ontology: | |
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Synonyms: |
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Definition: | A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. (3) | ||
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Ontology: | Human Disease ( DOID:0080769 ) |
OTHER early-onset vitamin B6-dependent epilepsy 1 PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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plpbpot101/+; plpbpot102/+ | standard conditions | Johnstone et al., 2019 |
PHENOTYPE
No data available
CITATIONS (1)
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