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Article

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in <i>MTOR</i>

16 Apr 2015

Abstract excerpt

OBJECTIVE: To define causative somatic mutations in resected brain tissue from an infant with intractable epilepsy secondary to hemispheric cortical dysplasia. METHODS: Whole-exome sequencing was conducted on genomic DNA derived from both resected brain tissue and peripheral blood leukocytes. Comparison of the brain vs blood sequencing results was performed using bioinformatic methods designed to detect...

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PMID: 25878179
DOI: 10.1212/wnl.0000000000001594

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