Diagnosis of pyridoxine‐dependent epilepsy in an adult presenting with recurrent status epilepticus
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DOI: 10.1111/epi.16408
Abstract: Pyridoxine‐dependent epilepsy (PDE) is a genetic metabolic disease caused by inborn errors affecting vitamin B6 metabolism, which typically presents with neonatal seizures resistant to antiepileptic drugs (AEDs). Treatment with pyridoxine terminates seizures and prevents neurological… read more here.
Keywords: pyridoxine; epilepsy; dependent epilepsy; diagnosis pyridoxine ... See more keywords