Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau et al. · Nature Genetics · 2013 · 441 citations

Medicine, Neurology, Neuroscience +17

CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*

Hilary A. Phillips, Isabelle Favre, Martin Kirkpatrick et al. · The American Journal of Human Genetics · 2001 · 325 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +11

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand et al. · Epilepsia · 2012 · 324 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Shining a Light on Dark Sequencing: Characterising Errors in Ion Torrent PGM Data

Lauren M. Bragg, Glenn Stone, Margaret K. Butler et al. · PLoS Computational Biology · 2013 · 297 citations · Full text

Life Sciences, Biology, Genetics +12

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

H. Christian Martin, Grace Kim, A. T. Pagnamenta et al. · Human Molecular Genetics · 2014 · 258 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17