title: Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
abstract: We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosphate oxidase gene mutation] along with a comprehensive review of the literature. One patient presented with neonatal tonic status epilepticus with subsequent generalized tonic-clonic seizures, and the second, with refractory complex partial seizures starting at 2 years of age. The pretreatment EEG revealed, interictally, burst suppression, multifocal independent sharp waves, and electrical status epilepticus in sleep. Ictally and interictally, it revealed runs of unilateral spike/slow waves. Previously reported features include burst suppression, myoclonus, tonic seizures, clonic seizures, and spasms. In the appropriate clinical scenario, the aforementioned features should raise the possibility of PLP-DE and appropriate treatment should be initiated. The first late-onset case (at 2 years) of PLP-DE is reported.
authors.affiliation: Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: Aravindhan
authors.initials: A
authors.lastname: Veerapandiyan
authors.forename: Sara A
authors.initials: SA
authors.lastname: Winchester
authors.forename: William B
authors.initials: WB
authors.lastname: Gallentine
authors.forename: Edward C
authors.initials: EC
authors.lastname: Smith
authors.forename: Sujay
authors.initials: S
authors.lastname: Kansagra
authors.forename: Keith
authors.initials: K
authors.lastname: Hyland
authors.forename: Mohamad A
authors.initials: MA
authors.lastname: Mikati
mesh_terms: D002675:Child, Preschool; D004569:Electroencephalography / Q000187:drug effects; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D011732:Pyridoxal Phosphate / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000627:therapeutic use
chemical_list: D011732:Pyridoxal Phosphate