Article

Identification of a novel mosaic<i>MTOR</i>variant in purified neuronal DNA from depth electrodes in a patient with focal cortical dysplasia

2024-01-20

Abstract excerpt

<h4>Background</h4> Recent studies have identified brain somatic variants as a cause of focal epilepsy. These studies relied on resected tissue from epilepsy surgery which is not available in most patients. The use of trace tissue adherent to depth electrodes used for stereo electroencephalography (stereo EEG) has been proposed as an alternative but is hampered by the low cell quality and contamination by non-brai...

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Literature Corpus work: 444498d3-7f3b-5aa5-9ccd-806b0680e196
DOI: 10.1101/2024.01.18.24301006

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