Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/18027
Title: Genetic generalized epilepsies.
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
EDate: 2018-05-09
Citation: 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
genetics
Appears in Collections:Journal articles

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