Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine‐dependent epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12184
Abstract: Certain loss‐of‐function mutations in the gene encoding the lysine catabolic enzyme aldehyde dehydrogenase 7A1 (ALDH7A1) cause pyridoxine‐dependent epilepsy (PDE). Missense mutations of Glu427, especially Glu427Gln, account for ~30% of the mutated alleles in PDE patients,… read more here.
Keywords: pathogenic mutations; aldh7a1; dependent epilepsy; mutations targeting ... See more keywords
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular and cellular probes"
DOI: 10.1016/j.mcp.2016.11.002
Abstract: Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step… read more here.
Keywords: epilepsy; aldh7a1; dependent epilepsy; missense mutation ... See more keywords