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.
Mignot, Cyril et al. Journal of Medical Genetics.
"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."
Wellington Regional Genetics Laboratory, Wellington, New Zealand