Pyridoxine-dependent Epilepsy
Disease Aliases (2) | Antiquitin deficiency Vitamin b6-dependent seizures |
Associated Genes (3) NCBI-RefSeq: SLC13A5 (Solute carrier family 13 member 5) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: PLPBP (Pyridoxal phosphate binding protein) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ALDH7A1 (Aldehyde dehydrogenase 7 family member A1) External Links: gnomAD browser Ensembl GeneCards
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Cross-references of Pyridoxine-dependent epilepsy | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |