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Mignot, Cyril et al. Journal of Medical Genetics.

Mignot, Cyril et al. Journal of Medical Genetics. 2016 Mar

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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