Somatic Mutation, Genomic Variation, and Neurological Disease
Year: 2013
Type: review
Abstract: Genetic mutations causing human disease are conventionally thought to be inherited through the germ line from one's parents and present in all somatic (body) cells, except for most cancer mutations, which arise somatically. Increasingly, somatic mutations are being identified in diseases other than cancer, including neurodevelopmental diseases. Somatic mutations can arise during the course of prenatal brain development and cause neurological disease-even when present at low levels of mosaicism, for example-resulting in brain malformations associated with epilepsy and intellectual disability. Novel, highly sensitive technologies will allow more accurate evaluation of somatic mutations in neurodevelopmental disorders and during normal brain development.
Source: Science
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Awards: Autism genetics: homozygosity mapping and functional validation, G2929635525, Medical Scientist Training Program, G421627756, Molecular, Cellular, & Developmental Dynamics PhD Program, Genetics of Familial Epilepsy Syndromes, G5295838751, Human Epilepsy Genetics - Neuronal Migration Disorders, Human autism genetics and activity dependent gene activation, Somatic mutations in epilepsy: whole genome sequence analysis of single neurons, Cell Identity Determination in Human Brain: Somatic Mutation and Cell Lineage, Human Epilepsy Genetics - Mosaic Mutations in Focal Epilepsy
OpenAlex ID: W2086289230