Cyril Mignot and colleagues report a exome sequencing analyses of SYNGAP1 gene on patients with neurodevelopmental disorders. They showed that mutations were distributed throughout the gene, but spared spliced 3′ and 5′ exons. They figured out that seizures in patients with mutations in SYNGAP1 exons 4-5 were more pharmacoresponsive than in patients with mutations in SYNGAP1 exons 8-15.
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Mignot, Cyril et al. Journal of Medical Genetics.
"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."
JOHN GARCIA, Invitae
San Francisco, USA
