TY  - GEN
AU  - Mills,Philippa B
AU  - Struys,Eduard
AU  - Jakobs,Cornelis
AU  - Plecko,Barbara
AU  - Baxter,Peter
AU  - Baumgartner,Matthias
AU  - Willemsen,Michèl A A P
AU  - Omran,Heymut
AU  - Tacke,Uta
AU  - Uhlenberg,Birgit
AU  - Weschke,Bernhard
AU  - Clayton,Peter T
TI  - Mutations in antiquitin in individuals with pyridoxine-dependent seizures
SN  - 1078-8956
PY  - 2006///0517
KW  - Aldehyde Dehydrogenase
KW  - genetics
KW  - Animals
KW  - Bacterial Proteins
KW  - metabolism
KW  - CHO Cells
KW  - Child
KW  - Child, Preschool
KW  - Cricetinae
KW  - Cricetulus
KW  - Exons
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Mutation
KW  - Oxidoreductases Acting on CH-NH Group Donors
KW  - Pipecolic Acids
KW  - Proline
KW  - Pyridoxal Phosphate
KW  - Pyridoxine
KW  - Seizures
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/nm1366
ER  -