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Title: Cutting Edge Approaches to Detecting Brain Mosaicism Associated with Common Focal Epilepsies: Implications for Diagnosis and Potential therapies.
Austin Authors: Ye, Zimeng;Bennett, Mark F ;Bahlo, Melanie;Scheffer, Ingrid E ;Berkovic, Samuel F ;Perucca, Piero ;Hildebrand, Michael S 
Affiliation: Department of Neurology, The Royal Melbourne Hospital, Parkville, Australia
Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia
Department of Neurology, Alfred Health, Melbourne, Australia
Epilepsy Research Centre
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia
Department of Medical Biology, The University of Melbourne, Parkville, Australia
Murdoch Children's Research Institute, Parkville, Australia
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Australia
Comprehensive Epilepsy Program
Issue Date: 2021
Date: 2021-09-22
Publication information: Expert review of neurotherapeutics 2021; 21(11): 1309-1316
Abstract: Mosaic variants arising in brain tissue are increasingly being recognized as a hidden cause of focal epilepsy. This knowledge gain has been driven by new, highly sensitive genetic technologies and genome-wide analysis of brain tissue from surgical resection or autopsy in a small proportion of patients with focal epilepsy. Recently reported novel strategies to detect mosaic variants limited to brain have exploited trace brain DNA obtained from cerebrospinal fluid liquid biopsies or stereo-electroencephalography electrodes. The authors review the data on these innovative approaches published in PubMed before June 12, 2021, discuss the challenges associated with their application, and describe how they are likely to improve detection of mosaic variants to provide new molecular diagnoses and therapeutic targets for focal epilepsy, with potential utility in other non-malignant neurological disorders. These cutting-edge approaches may reveal the hidden genetic aetiology of focal epilepsies and provide guidance for precision medicine. (150/150 words).
DOI: 10.1080/14737175.2021.1981288
Journal: Expert Review of Neurotherapeutics
PubMed URL: 34519595
Type: Journal Article
Subjects: CSF liquid biopsy
brain lesion
focal epilepsy
high-depth exome sequencing
somatic mosaicism
Appears in Collections:Journal articles

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