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Results 1 - 3 of 3 for "Pyridoxine-dependent" epilepsy
  1. Pyridoxine-dependent epilepsy 
    Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  2. 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
  3. Pyridoxal phosphate-responsive seizures 
    ... seen in people with PNPO deficiency. These include pyridoxine-dependent epilepsy caused by changes in the ALDH7A1 gene and ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics