Article

Reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies

2017-04-24

Abstract excerpt

<h4>Purpose</h4> Increasing availability of surgically resected brain tissue from Focal Cortical Dysplasia and low-grade epilepsy-associated tumor patients fostered large-scale genetic examination. However, assessment of germline and somatic variant pathogenicity remains difficult. <h4>Methods</h4> Here, we critically reevaluated the pathogenicity for all neuropathology-associated variants reported to date in th...

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Literature Corpus work: 4cef57c6-6c69-5696-b3b7-b308542d9fc0
DOI: 10.1101/130203

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