[Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy].
Zhi-xian
ZX
Yang
Jiong
J
Qin
D015074:2-Aminoadipic Acid / Q000031:analogs & derivatives* / Q000032:analysis; D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D000927:Anticonvulsants / Q000627:therapeutic use*; D015415:Biomarkers / Q000032:analysis; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D011379:Prognosis; D011736:Pyridoxine / Q000627:therapeutic use*; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D013226:Status Epilepticus / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics
D000927:Anticonvulsants; D015415:Biomarkers; D015074:2-Aminoadipic Acid; C000061:allysine; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D011736:Pyridoxine