Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants
Alissa M. D’Gama,
H. Westley Phillips,
Yilan Wang
et al.
Abstract:Somatic mosaic variants contribute to focal epilepsy, but genetic analysis has been limited to patients with drug-resistant epilepsy (DRE) who undergo surgical resection, as the variants are mainly brain-limited. Stereoelectroencephalography (sEEG) has become part of the evaluation for many patients with focal DRE, and sEEG electrodes provide a potential source of small amounts of brain-derived DNA. We aimed to identify, validate, and assess the distribution of potentially clinically relevant mosaic variants i… Show more
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