ArticlePloS one2011
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.Disease models & mechanisms · 2022Article
- Phenotypic Variability of 17q12 Microdeletion Syndrome - Three Cases and Review of Literature.Balkan journal of medical genetics : BJMG · 2021Article
- Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes.Endocrine · 2021Article
- 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.PLoS genetics · 2021Article
- HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.Kidney international reports · 2019Article
- Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure.Alcoholism, clinical and experimental research · 2017Article
- HNF1B-associated clinical phenotypes: the kidney and beyond.Pediatric nephrology (Berlin, Germany) · 2016Review
- Three-dimensional human facial morphologies as robust aging markers.Cell research · 2015Article
- TAM receptor signaling in immune homeostasis.Annual review of immunology · 2015Review
- Facial dysmorphism across the fetal alcohol spectrum.Pediatrics · 2013Article
- Atypical face shape and genomic structural variants in epilepsy.Brain : a journal of neurology · 2012Article
- Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.European journal of medical genetics · 2012Article
- Large-scale objective phenotyping of 3D facial morphology.Human mutation · 2012Review
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Authors and funding
17 authors.
Funding
Abstract
backgroundPatients 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. METHODOLOGY/PRINCIPAL
findingsWe 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. CONCLUSIONS/SIGNIFICANCE: 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.
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