Title : The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.

Pub. Date : 2010 Oct

PMID : 20814824






2 Functional Relationships(s)
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1 Pyridoxine-dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of alpha-aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of alpha-aminoadipic semialdehyde and piperideine-6-carboxylic acid. allysine aldehyde dehydrogenase 7 family member A1 Homo sapiens
2 Pyridoxine-dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of alpha-aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of alpha-aminoadipic semialdehyde and piperideine-6-carboxylic acid. allysine aldehyde dehydrogenase 7 family member A1 Homo sapiens