HCN2 is a top candidate gene for absence epilepsy, in fact there are few genes that are higher on the list of candidates than HCN2, which is expressed in the thalamus, modulating thalamocortical oscillations. The problem is that mutations in humans have not been described to date, an orphan candidate gene in a way…
This paper presents another line of evidence for the involvement of HCN2 in absence epilepsy. A spontaneous mouse mutant -apathetic- was found to have a 4 base pair insertion in the coding region of HCN2. Ingo
This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.
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Helbig, I. HCN2 goes apathetic. Retrieved [enter date], from http://www.euroepinomics.wordpress.com