Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K citations · Full text

Life Sciences, Genetics, Neuroscience +12

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

Medicine, Genetics, Neurology +17

Targeted treatment of migrating partial seizures of infancy with quinidine

David Bearden, Alanna Strong, Jessica Ehnot et al. · Annals of Neurology · 2014 · 262 citations

Medicine, Pharmacology, Pharmacotherapy +17

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Saadet Mercimek‐Mahmutoglu, Jaina Patel, Dawn Cordeiro et al. · Epilepsia · 2015 · 249 citations · Full text

Medicine, Genetics, Neurology +16