Tally Lerman‐Sagie

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 450 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

Robyn H. Wallace, Ingrid E. Scheffer, Shaun Barnett et al. · The American Journal of Human Genetics · 2001 · 344 citations · Full text

Life Sciences, Neurology, Neuroscience +16

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