Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

Sensory Neuropathy from Pyridoxine Abuse

Herbert H. Schaumburg, Jerry G. Kaplan, Anthony J. Windebank et al. · New England Journal of Medicine · 1983 · 705 citations

Medicine, Neurology, Neuroscience +13

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 547 citations

Medicine, Neurology, Neuroscience +11

PYRIDOXINE DEPENDENCY: REPORT OF A CASE OF INTRACTABLE CONVULSIONS IN AN INFANT CONTROLLED BY PYRIDOXINE

Andrew D. Hunt, Joseph Stokes, Wallace W. McCrory et al. · PEDIATRICS · 1954 · 415 citations

Medicine, Neurology, Pediatrics +13

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

Philippa B. Mills, Robert Surtees, M. P. Champion et al. · Human Molecular Genetics · 2005 · 307 citations · Full text

Medicine, Neurobiology, Neuroscience +17

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Barbara Plecko, Karl Paul, Eduard Paschke et al. · Human Mutation · 2006 · 167 citations

Medicine, Neurology, Pharmacology +15