PloS one, 2011-08, Vol.6 (8), p.e23182
2011
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Details
- Autor(en) / Beteiligte
- Titel
- Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions
- Ist Teil von
- PloS one, 2011-08, Vol.6 (8), p.e23182
- Ort / Verlag
- United States: Public Library of Science
- Erscheinungsjahr
- 2011
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained. We describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic microdeletions were found during a study of genetic susceptibility to epilepsy. We performed detailed gene-driven clinical investigations in each patient. Disruption of the function of genes in the deleted regions can explain co-morbidities in these patients. Co-morbidities in patients with epilepsy can be part of a genomic abnormality even in the absence of (known) congenital malformations or intellectual disabilities. Gene-driven phenotype examination can also reveal clinically significant unsuspected condition.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1932-6203eISSN: 1932-6203DOI: 10.1371/journal.pone.0023182Titel-ID: cdi_plos_journals_1308407757
- Format
- –
- Schlagworte
- Abnormalities, Multiple - genetics, Abnormalities, Multiple - pathology, Adult, Biology, Childrens health, Chromosome Deletion, Chromosome Disorders - epidemiology, Chromosome Disorders - genetics, Chromosome Disorders - pathology, Chromosomes, Chromosomes, Human, Pair 12 - genetics, Chromosomes, Human, Pair 17 - genetics, Chromosomes, Human, Pair 3 - genetics, Chronic illnesses, Comorbidity, Congenital defects, Congenital diseases, Developmental disabilities, Diagnostic tests, Disabilities, Disease susceptibility, Drugs, Epilepsy, Epilepsy - epidemiology, Epilepsy - genetics, Epilepsy - pathology, Female, Gene Deletion, Genes, Genetic aspects, Genetic Association Studies, Genetic Predisposition to Disease - genetics, Genetics, Genomes, Hospitals, Humans, Intellectual disabilities, Male, Medicine, Morbidity, Mutation, Neurology, Neuromuscular diseases, Neurosurgery, Patients, Phenotypes