Lennox-Gastaut syndrome (LGS) is a severe type of childhood-onset epilepsy characterized by multiple types of seizures, specific discharges on electroencephalography, and intellectual disability. Most
Project 2 of the Epi4K: Gene Discovery in 4,000 Epilepsy Genomes project is designed to study the genetic bases of familial epilepsies, in particular genetic generalized and non-acquried (non-lesional
Background: Epilepsy in childhood is a common and diverse neurological disorder. We conducted a genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy. Methods: We co
De novo mutations observed in individual IV.1. Sequenced reads were aligned to the hg19 reference human genome downloaded from UCSC and aligned using Burrows–Wheeler alignment (BWA-MEM). De novo</
