Xenia Iona

The spectrum of SCN1A-related infantile epileptic encephalopathies

Louise A. Harkin, Jacinta M. McMahon, Xenia Iona et al. · Brain · 2007 · 530 citations · Full text

Medicine, Genetics, Neurology +17

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

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study

Samuel F. Berkovic, Louise A. Harkin, Jacinta M. McMahon et al. · The Lancet Neurology · 2006 · 294 citations

Life Sciences, Genetics, Molecular Genetics +16

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

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation

Martin Puskarjov, Patricia Seja, Sarah E. Heron et al. · EMBO Reports · 2014 · 191 citations · Full text

Life Sciences, Neurology, Neuroscience +15