GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
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

 


Cross-references of Pyridoxine-dependent epilepsy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations