Journal article

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies

Zimeng Ye, Lara McQuillan, Annapurna Poduri, Timothy E Green, Naomichi Matsumoto, Heather C Mefford, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand

Epilepsy Research | ELSEVIER | Published : 2019

Abstract

Over the past decade there has been a substantial increase in genetic studies of brain malformations, fueled by the availability of improved technologies to study surgical tissue to address the hypothesis that focal lesions arise from focal, post-zygotic genetic disruptions. Traditional genetic studies of patients with malformations utilized leukocyte-derived DNA to search for germline variants, which are inherited or arise de novo in parental gametes. Recent studies have demonstrated somatic variants that arise post-zygotically also underlie brain malformations, and that somatic mutation explains a larger proportion of focal malformations than previously thought. We now know from studies of..

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