Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

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. Compar...

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Veröffentlicht in:Neurology
Hauptverfasser: Leventer, Richard J., Scerri, Thomas, Marsh, Ashley P.L., Pope, Kate, Gillies, Greta, Maixner, Wirginia, MacGregor, Duncan, Harvey, A. Simon, Delatycki, Martin B., Amor, David J., Crino, Peter, Bahlo, Melanie, Lockhart, Paul J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4442098/
https://ncbi.nlm.nih.gov/pubmed/25878179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001594
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