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Genetic generalized epilepsies
Author(s) -
Mullen Saul A.,
Berkovic Samuel F.
Publication year - 2018
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.14042
Subject(s) - copy number variation , genetic testing , genetics , multifactorial inheritance , inheritance (genetic algorithm) , allele , biology , epilepsy , gene , genetic association , genome , single nucleotide polymorphism , neuroscience , genotype
Summary The 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 SLC 2A1 leading to autosomal‐dominant GLUT 1 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 GGE s. 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.