Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy
The Canadian Journal of Neurological Sciences, 06/26/2012
Alfadhel M et al. – Although seizures are a defining feature of Pyridoxine dependent epilepsy (PDE), other disease manifestations can vary widely even within the same family. Adult neurologists should be aware that the diagnosis of PDE can be delayed and PDE should be considered in the differential diagnosis of adults with seizure disorders dating from childhood.