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Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue

18 Jun 2020

Abstract excerpt

Objective Many genetic studies of intractable epilepsy in pediatric patients primarily focus on inherited, constitutional genetic deficiencies identified in patient blood. Recently, studies have revealed somatic mosaicism associated with epilepsy in which genetic variants are present only in a subset of brain cells. We hypothesize that tissue-specific, somatic mosaicism represents an important genetic etiology in...

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PMID: 32637635
DOI: 10.1212/nxg.0000000000000460

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