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Article

Epileptic spasms are a feature of DEPDC5 mTORopathy

1 Aug 2015

Abstract excerpt

OBJECTIVE: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms. METHODS: We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants. RESULTS: We identified 3 patients with variants in DEPDC5 in the cohort of 130 patients with spasms. We...

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PMID: 27066554
DOI: 10.1212/nxg.0000000000000016

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