Xenia Iona

The spectrum of SCN1A-related infantile epileptic encephalopathies

Louise A. Harkin, Jacinta M. McMahon, Xenia Iona et al. · Brain · 2007 · 527 citations · Full text

Scn1a Mutations, Subunit Gene Scn1a, Neurological Disorder +11

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M. Dibbens, Boukje de Vries, Simona Donatello et al. · Nature Genetics · 2013 · 358 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

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 · 293 citations

Retrospective Study, De-novo Mutations, Alleged Vaccine Encephalopathy +5

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 · 258 citations · Full text

Developmental Anomaly, Genetic Disorder, Choreoathetosis Syndrome +6

A variant of <scp>KCC</scp> 2 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 · 188 citations · Full text