GABAergic. Let’s start out with a provocative statement. There is a single gene that may explain more cases of Lennox-Gastaut Syndrome (LGS) and Infantile Spasms (IS) than you would expect, rivalling SCN1A for the most common gene found in this group of patients. It’s a gene that you are probably aware of but that you may think to be a very rare finding. In a recent publication in Annals of Neurology, the Epi4K consortium published their recent analysis of copy number variations that were derived from exome data. Combining de novo mutations and copy number variations points to GABRB3 as a major player in LGS and IS, explaining probably more than 2% of patients. Let’s find out about the twilight zone, strategies to obtain structural variants from exomes, and the re-emergence of the 15q duplication syndrome. Continue reading
Tag Archives: 2015
Publications of the week – ATK3, TBC1D24, and BRAT1
Getting started in 2015. For the first issue of publications of the week this year, we have chosen a few case reports of genetic epilepsies, which expand the spectrum of known syndromes. All three publications highlight important features of rare genetic epilepsies that you might not have been aware of. Continue reading