Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.4K citations · Full text

Relative Pathogenicity, Genetics, Genetic Epidemiology +16

<scp>ILAE</scp> classification of the epilepsies: Position paper of the <scp>ILAE</scp> Commission for Classification and Terminology

Ingrid E. Scheffer, Samuel F. Berkovic, Giuseppe Capovilla et al. · Epilepsia · 2017 · 4.7K citations · Full text

Urology, Neurobiology Of Disease, Neuropsychology +15

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology

Robert S. Fisher, J. Helen Cross, Jacqueline A. French et al. · Epilepsia · 2017 · 3.3K citations · Full text

Neuropsychology, Seizure Types, Generalized Seizure +20

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

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Predicting the functional impact of protein mutations: application to cancer genomics

Boris Reva, Yevgeniy Antipin, Chris Sander · Nucleic Acids Research · 2011 · 2.1K citations · Full text

Engineering, Genetics, Genetic Epidemiology +23