We have set up a library in Mendeley to collect relevant papers for EuroEPINOMICS. Keeping up to date feels like a menial task yet no simple solution delivers good results. You can’t read all the tables of contents by mail (or RSS) and publishers have the tendency to spam those e-mails, but most likely you’re subscribed to the essentials. The more anxious of us employ automated search services at the NCBI or use the good old PubCrawler to follow their field of research, a particular gene, or the output of their nemesi or mentors.
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Monthly Archives: September 2012
A little clonazepam to rescue behavioral deficits in SCN1A-deficient mice
Dravet Syndrome, behavior and cognition. Dravet Syndrome, or Severe Myoclonic Epilepsy of Infancy (SMEI), is a severe childhood epilepsy due to disruptions of the SCN1A gene. Besides the actual seizures, Dravet Syndrome is characterized by a plateauing of cognitive development in the second year of life. In childhood, most patients with Dravet Syndrome have intellectual disability, and the frequency of other neurodevelopmental disorders including autism are increased. Neurodevelopmental features of Dravet Syndrome have recently come into the focus of research, as de novo mutations in SCN1A were discovered in patients with autism. Now a recent study in Nature sheds some light on the underlying pathophysiology and discovers a surprising treatment effect. Continue reading
