Lynette G. Sadleir

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 · 683 citations · Full text

Genetics, Novo Mutations, Neurotransmission +5

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

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Gemma L. Carvill, Brigid M. Regan, Simone C. Yendle et al. · Nature Genetics · 2013 · 372 citations · Full text

Genetic Disorder, Grin2a Mutations, Neurology +4

Mortality in Dravet syndrome

Monica S. Cooper, Anne M. McIntosh, Douglas E. Crompton et al. · Epilepsy Research · 2016 · 302 citations

Medicine, Dravet Syndrome, Degenerative Disease

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10