Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.
Jasper V
JV
Been
Levinus A
LA
Bok
Michèl A A P
MA
Willemsen
Eduard A
EA
Struys
Cornelis
C
Jakobs
D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011736:Pyridoxine / Q000172:deficiency*; D012640:Seizures / Q000235:genetics*; D026681:Vitamin B 6 Deficiency / Q000235:genetics*
C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D011736:Pyridoxine