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March 20, 2014BMC Medical GeneticsOpen Access

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

Teresa Tavassoli Alexander Kolevzon A. Ting Wang Jocelyn T. Curchack-Lichtin Danielle Halpern Lily Schwartz Sarah Soffes Lauren Bush David Grodberg Guiqing Cai Joseph D. Buxbaum

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Abstract

This report indicates that a splice site mutation in SCN2A might be contributing to the risk of ASD. Describing the specific phenotype associated with SCN2A mutations might help to reduce heterogeneity seen in ASD.

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Cite This Study

Tavassoli et al. (2014) studied this question.

synapsesocial.com/papers/698cb29f21ceba5912cac2a5 https://doi.org/10.1186/1471-2350-15-35

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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