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GENATLAS PHENOTYPE
last update : 29/06/2006
Symbol EPD
Location 5q23.2
Name epilepsy, pyridoxine-dependent
Other name(s) pyridoxine dependency with seizures
Corresponding gene ALDH7A1
Other symbol(s) PDS
Main clinical features
  • characterized by generalized seizures in the first hours of life and responding to pyridoxine
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function E399Q, mostly frequent mutation, leading to P6C accumulation, inactivating pyridoxal 5'-phosphate (PLP)
    Remark(s)