Emma Footitt

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

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Philippa B. Mills, Stéphane Camuzeaux, Emma Footitt et al. · Brain · 2014 · 179 citations · Full text

Medicine, Molecular Genetics, Neurology +17

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

Niklas Darín, Emma Reid, Laurence Prunetti et al. · The American Journal of Human Genetics · 2016 · 139 citations · Full text

Medicine, Genetics, Molecular Genetics +12

TRNT1 deficiency: clinical, biochemical and molecular genetic features

Yehani Wedatilake, Rojeen Niazi, Elisa Fassone et al. · Orphanet Journal of Rare Diseases · 2016 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Pyridoxal 5'‐phosphate in cerebrospinal fluid; factors affecting concentration

Emma Footitt, Simon Heales, Philippa B. Mills et al. · Journal of Inherited Metabolic Disease · 2011 · 79 citations

Medicine, Pharmacokinetics, Pharmacology +7