Article
Genetic investigations of the epileptic encephalopathies: Recent advances.
Progress in brain research - 1 Jan 2016
Myers C T, Mefford H C
Abstract excerpt
The epileptic encephalopathies (EEs) are a group of epilepsy syndromes characterized by multiple seizure types, abundant epileptiform activity, and developmental delay or regression. Advances in genomic technologies over the past decade have accelerated our understanding of the genetic etiology of EE, which is largely due to de novo mutations. Chromosome microarrays to detect copy number variants identify a...
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