Brain somatic mutations are an increasingly recognized cause of epilepsy, brain
malformations and autism spectrum disorders and may be a hidden cause of other …

Brain mosaic mutations are a major cause of refractory focal epilepsies with cortical
malformations such as focal cortical dysplasia, hemimegalencephaly, malformation of …

Over the past decade, there has been tremendous progress in understanding brain somatic
mosaicism in epilepsy in the research setting. Access to resected brain tissue samples from …

Background Although there is increasing recognition of the role of somatic mutations in
genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and …

Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …

Background: Postzygotic chromosomal variation in neuronal cells is hypothesized to make a
substantial contribution to the etiology and pathogenesis of neuropsychiatric disorders …

Objective Many genetic studies of intractable epilepsy in pediatric patients primarily focus on
inherited, constitutional genetic deficiencies identified in patient blood. Recently, studies …

Objective To perform an extensive search for genomic rearrangements by microarray-based
comparative genomic hybridization in patients with epilepsy. Design Prospective cohort …

During the past years, significant advances have been made in our understanding of the
development of the human brain, and much of this knowledge comes from genetic studies of …

Somatic mosaicism is a known cause of neurological disorders, including developmental
brain malformations and epilepsy. Brain mosaicism is traditionally attributed to post-zygotic …