Pushing the button for the next exome sequencing round

Galvanize. Last week, the EuroEPINOMICS RES working groups made the final decisions for the selection of trios for exome sequencing at the Sanger Centre, funded jointly by the Sanger Programme on paroxysmal neurological disorders and the EuroEpinomics RES fund. We pushed the button for 102 patient-parent trios to be sequenced. And for some reason, I caught myself humming “Galvanize“, the 2005 big beat hymn by the Chemical Brothers. Continue reading

Traveling with Lennox – myoclonic jerks, West Syndrome and the 34th meridian

Where is West Syndrome? Earlier this week while browsing through the contents of Lennox’s book, I wondered where his description of West Syndrome was hidden. Lennox is very careful in reviewing the historical data on epilepsy, but for some reason, he did not mention the report by William James West, who described a particular type of epilepsy in his own son that would later be named after him. Then, when I had almost forgotten that I was on the lookout for West Syndrome, I stumbled upon it in the chapter on myoclonic seizures. Continue reading