Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
Gabrielle Rudolf, Julitta de Bellescize, Anne de Saint Martin, Alexis Arzimanoglou, Maria Paola Valenti Hirsch, Audrey Labalme, Clotilde Boulay, Thomas Simonet, Anne Boland, Jean‐François Deleuze, Patrick Nitschké, Emmanuelle Ollivier, Damien Sanlaville, Édouard Hirsch, Jamel Chelly, Gaëtan Lesca
Topics & Concepts
Rolandic epilepsyExome sequencingEpilepsyMissense mutationEpilepsy syndromesCandidate geneExomeCopy-number variationMedicineGeneticsNeuroscienceBiologyGeneMutationGenomeEpilepsy research and treatmentGenomics and Rare DiseasesGenomic variations and chromosomal abnormalities