James N. Hughes

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M. Dibbens, Boukje de Vries, Simona Donatello et al. · Nature Genetics · 2013 · 364 citations · Full text

Life Sciences, Genetics, Neuroscience +14

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity et al. · The American Journal of Human Genetics · 2012 · 261 citations · Full text

Medicine, Neurology, Neuroscience +14

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

Hongjun Shi, Annabelle Enriquez, Melissa Rapadas et al. · New England Journal of Medicine · 2017 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

Daniel T. Pederick, Kay Richards, Sandra Piltz et al. · Neuron · 2018 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

Daniel T. Pederick, Claire C. Homan, Emily J. Jaehne et al. · Scientific Reports · 2016 · 67 citations · Full text

Medicine, Genetics, Neuroscience +17