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Epilepsia
Article
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Epilepsia
Article . 2018 . Peer-reviewed
License: Wiley Online Library User Agreement
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Genetic generalized epilepsies

Authors: Saul A. Mullen; Samuel F. Berkovic;

Genetic generalized epilepsies

Abstract

SummaryThe genetic generalized epilepsies (GGEs) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute. Pathogenic variants of SLC2A1 leading to autosomal‐dominant GLUT1 deficiency account for up to 1% of cases, increasing to 10% of those with absence seizures starting before age 4 years. Copy number variants are found in around 3% of cases, acting as risk alleles. Copy number variation is much more common in those with comorbid learning disability. Common variant associations are starting to emerge from genome‐wide association studies but do not yet explain a large proportion of GGEs. Although currently genetic testing is not likely to yield a diagnosis for most patients with GGEs, it can be of great importance in specific clinical situations. Providers should consider the individual patient's history in determining the utility of genetic testing.

Country
Australia
Keywords

Glucose Transporter Type 1, DNA Copy Number Variations, Monosaccharide Transport Proteins, Learning Disabilities, 610, 616, Humans, Epilepsy, Generalized, Genetic Predisposition to Disease, Genetic Association Studies, Carbohydrate Metabolism, Inborn Errors

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
84
Top 1%
Top 10%
Top 1%
bronze