Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine‐dependent epilepsy
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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