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Article

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Annals of neurology - 1 Apr 2015

D'Gama Alissa M, Geng Ying, Couto Javier A, Martin Beth, Boyle Evan A, LaCoursiere Christopher M, Hossain Amer, Hatem Nicole E, Barry Brenda J, Kwiatkowski David J, Vinters Harry V, Barkovich A James, Shendure Jay, Mathern Gary W, Walsh Christopher A, Poduri Annapurna

Abstract excerpt

Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and nonbrain samples from 53 patients with FCD or HME, we identified pathogenic germline and mosaic mutations in multiple PI3K/AKT pathway genes in 9 patients, and a likely...

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Identifiers

PMID: 25599672
DOI: 10.1002/ana.24357
PMCID: PMC4471336

Genes

DEPDC5

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