Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy

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

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

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

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

Saskia H. L. Mandey, Marit S. Schneiders, Janet Koster et al. · Human Mutation · 2006 · 120 citations

Life Sciences, Genetics, Molecular Genetics +16