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|Title:||Genetic generalized epilepsies.||Austin Authors:||Mullen, Saul A ;Berkovic, Samuel F||Affiliation:||Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
|Issue Date:||Jun-2018||metadata.dc.date:||2018-05-09||Publication information:||Epilepsia 2018; 59(6): 1148-1153||Abstract:||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 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.||URI:||http://ahro.austin.org.au/austinjspui/handle/1/18027||DOI:||10.1111/epi.14042||ORCID:||0000-0003-4580-841X||PubMed URL:||29741207||Type:||Journal Article||Subjects:||generalized epilepsy
|Appears in Collections:||Journal articles|
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