Pyridoxine-dependent epilepsy: report on three families with neuropathology

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

The B6 database: a tool for the description and classification of vitamin B6-dependent enzymatic activities and of the corresponding protein families

Riccardo Percudani, Alessio Peracchi · BMC Bioinformatics · 2009 · 316 citations · Full text

Life Sciences, Biochemistry, Bioinformatics +14

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Philippa B. Mills, Emma Footitt, Kevin Mills et al. · Brain · 2010 · 266 citations · Full text

Medicine, Neurology, Biochemical Genetics +16

PYRIDOXINE‐DEPENDENT SEIZURES: DEMOGRAPHIC, CLINICAL, MRI AND PSYCHOMETRIC FEATURES, AND EFFECT OF DOSE ON INTELLIGENCE QUOTIENT

Peter Baxter, Peter Griffiths, Thomas M. Kelly et al. · Developmental Medicine & Child Neurology · 1996 · 116 citations

Medicine, Neurology, Pediatrics +17

Long‐term outcome in pyridoxine‐dependent epilepsy

Levinus A. Bok, Feico J. J. Halbertsma, Saskia Houterman et al. · Developmental Medicine & Child Neurology · 2012 · 115 citations · Full text

Medicine, Neurology, Pediatrics +16