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Martin H. Berryer, Fadi F. Hamdan, Laura L. Klitten, Rikke S. Møller, Lionel Carmant, Jeremy Schwartzentruber, Lysanne Patry, Sylvia Dobrzeniecka, Daniel Rochefort, Mathilde Neugnot-Cerioli, Jean-Claude Lacaille, Zhiyv Niu, Christine M. Eng, Yaping Yang, Sylvain Palardy, Céline Belhumeur, Guy A. Rouleau, Niels Tommerup, LaDonna Immken, Miriam H. Beauchamp, Gayle Simpson Patel, Jacek Majewski, Mark A. Tarnopolsky, Klaus Scheffzek, Helle Hjalgrim, Jacques L. Michaud and Graziella Di Cristo Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency Human Mutation 34

Version of Record online: 12 DEC 2012 | DOI: 10.1002/humu.22248

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We identified the first pathogenic de novo missense mutations (p.W362R, p.P562L) and three novel truncating mutations in SYNGAP1 in patients with non-syndromic intellectual disability (NSID) with or without autism or epilepsy. Both missense mutations and the previously described p.R579X impaired SYNGAP1 ability to reduce pERK levels in transfected cortical organotypic cultures, suggesting a possible loss of SYNGAP1 function. Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption.

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