KEGG   VARIANT: 501v1
Entry
501v1                      Variant                                 
Name
ALDH7A1 deficiency
Type
Loss of function
Gene
ALDH7A1  aldehyde dehydrogenase 7 family member A1 [KO:K14085]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 107323
Network
nt06036  Lysine degradation
Disease
H01247  Pyridoxine-dependent epilepsy
Reference
PMID:16491085
  Authors
Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT
  Title
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
  Journal
Nat Med 12:307-9 (2006)
DOI:10.1038/nm1366
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