[HTML][HTML] Pyridoxine/P5P-dependent developmental epileptic encephalopathy

RH Caraballo - medlink.com
This article includes discussion of pyridoxine-dependent epilepsy, vitamin B6-dependent
seizures, pyridoxine-dependent seizures, classic neonatal pyridoxine-dependent seizures …

[HTML][HTML] PNPO Deficiency Synonym: Pyridox (am) ine 5'-Phosphate Oxidase Deficiency

B Plecko, P Mills - europepmc.org
Untreated pyridox (am) ine 5'-phosphate oxidase (PNPO) deficiency, characterized by a
range of seizure types, is" classic"(ie, seizure onset in the neonatal period) in about 90% of …

[HTML][HTML] Pyridoxine-Dependent Epilepsy–ALDH7A1 Synonyms: AASADH Deficiency, ALDH7A1 Deficiency, Alpha Aminoadipic Semialdehyde (α-AASA) …

SM Gospe Jr - europepmc.org
Pyridoxine-dependent epilepsy–ALDH7A1 (PDE-ALDH7A1) is characterized by seizures
not well controlled with anti-seizure medication that are responsive clinically and …

[引用][C] PNPO Deficiency

MP Adam, RA Pagon - 1993