Sophie Calvert

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 694 citations · Full text

Life Sciences, Genetics, Neuroscience +14

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

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

Finbar O’Callaghan, Stuart W. Edwards, Fabienne Dietrich Alber et al. · The Lancet Child & Adolescent Health · 2018 · 165 citations · Full text

Medicine, Neurology, Pharmacotherapy +7

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Bronwyn E. Grinton, Sarah E. Heron, James T. Pelekanos et al. · Epilepsia · 2015 · 128 citations

Life Sciences, Genetics, Neurology +17

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

McKenna Kelly, Meredith Park, Ivana Mihalek et al. · Epilepsia · 2019 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14