Infantile spasms (IS) and Lennox Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early-onset, intractable seizures and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome-predicted CNVs by array-based methods is still required due to false positive rates of prediction algorithms. Our exome-based results are consistent with recent array-based studies in similar cohorts and highlight novel candidate genes for IS and LGS. This article is protected by copyright. All rights reserved.
This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 December 2024.
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#9,392,889
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Outputs of similar age from Annals of Neurology
#31
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Altmetric has tracked 29,602,031 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
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