If appropriate, each sample has indicated family and relationship: P -patient, B -brother, F -father, Sanger.Junc is the sequencing results of Figure 2 C. PacBio.Junc indicates the breakpoint haplotyp
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
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