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Results 1 - 1 of 1 for "Pyridoxine-dependent" epilepsy
  1. ALDH7A1 gene 
    ... the ALDH7A1 gene have been found to cause pyridoxine-dependent epilepsy. Most of these mutations are specific to single ... as Glu399Gln or E399Q). All mutations that cause pyridoxine-dependent epilepsy produce a nonfunctional antiquitin protein. A shortage (deficiency) ...
    https://medlineplus.gov/genetics/gene/aldh7a1 - Genetics