Jacinta M. McMahon

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

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

Mortality in Dravet syndrome

Monica S. Cooper, Anne M. McIntosh, Douglas E. Crompton et al. · Epilepsy Research · 2016 · 311 citations

Medicine, Cardiology, Clinical Epidemiology +2

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

The phenotypic spectrum of <i>SCN8A</i> encephalopathy

Jan Larsen, Gemma L. Carvill, Elena Gardella et al. · Neurology · 2015 · 285 citations · Full text

Medicine, Genetics, Neurology +17