ArticleGenome medicine2009
Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way.
Article in Genome medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Modulating Neuroinflammation to Treat Neuropsychiatric Disorders.BioMed research international · 2017Review
- A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis.Genes, brain, and behavior · 2014Article
- Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.European journal of human genetics : EJHG · 2013Article
- Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating.European journal of human genetics : EJHG · 2013Article
- Epilepsy and the new cytogenetics.Epilepsia · 2011Review
- Genetically complex epilepsies, copy number variants and syndrome constellations.Genome medicine · 2010Article
- Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.Human molecular genetics · 2009Article
Corrections and comments
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Authors and funding
2 authors.
Funding
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Abstract
The idiopathic epilepsies are genetically heterogeneous with more than 50 clinical classifications. They are characterized by episodic seizures arising from erratic neuronal discharge in susceptible individuals. The most common predisposing genetic cause is the recently discovered chromosome 15q13.3 microdeletion. Other disorders previously attributed to the same lesion include autism, intellectual disability and schizophrenia. This phenotypic spectrum is most easily imagined as a contiguous gene syndrome with idiopathic generalized epilepsy as the most common clinical manifestation. Expressivity of the microdeletion in carriers is too variable for antenatal prediction of phenotype to be possible; however, when it is detected in living affected cases, it can be taken as the major predisposing cause for the observed phenotype. The discovery of this small 15q13.3 lesion barely scratches the surface that conceals what we ultimately need to know about the molecular genetic mechanisms behind the common epilepsies with complex genetics, but it provides valuable insight into how to proceed toward that goal.
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Registered trials
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