Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.
Gospe
Sidney M
SM
Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.
D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000503:physiopathology*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology*; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology*; D005133:Eye Movements / Q000502:physiology; D005149:Facial Expression; D006801:Humans; D007223:Infant; D009207:Myoclonus / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D011734:Pyridoxaminephosphate Oxidase / Q000172:deficiency*; D011736:Pyridoxine / Q000627:therapeutic use; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D014741:Video Recording
D000927:Anticonvulsants; D011734:Pyridoxaminephosphate Oxidase; D011736:Pyridoxine