Looking back. This is our final blog post for 2022 and a good opportunity to look back at what happened in the last 12 months in epilepsy genetics. In brief, it was a busy time and if I were to look back at 2022 in a few years, I would probably characterize this year as a transitional year. Antisense oligonucleotides, gene therapies, and other novel treatments are on the horizon, but the field is not quite there yet. For this blog post, I would like to put the focus on five discoveries in 2022 that did not receive as much attention on our blog as they probably should have. Continue reading
Tag Archives: GABRD
A numbers game – Copy Number Variations in schizophrenia
GABA/glutamate. Even though large-scale Copy Number Variation (CNV) studies in schizophrenia, autism, and intellectual disability were en vogue only a few years ago, it became quiet around these type of studies more recently. Now, a recent study in Neuron revisits CNV analysis in schizophrenia with the largest sample size to date, cancelling out much of the noise that smaller studies had to fight with. Find out how the authors managed to demonstrate a contribution of the GABAergic and glutamatergic system to schizophrenia by sheer numbers. Continue reading
EFHC1 – retiring an epilepsy gene
The era of gene retirement. As of 2015, the list of epilepsy genes has shrunk by one. EFHC1, a gene initially proposed to be a monogenic cause of Juvenile Myoclonic Epilepsy, is no longer an epilepsy gene. A recent study in Epilepsia finds that EFHC1 variants initially thought to be pathogenic are found in unaffected controls of the same ancestry. Follow us on one of the most perplexing journeys that modern day neurogenetics has to offer, and the retirement of the first epilepsy gene. Continue reading
