Title : Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

Pub. Date : 2021

PMID : 34495967






1 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 Central nervous system glutamate toxicity and impaired energy production may play important roles in the disease neuropathogenesis and severity in human PDE-ALDH7A1. Glutamic Acid aldehyde dehydrogenase 7 family member A1 Homo sapiens