Acetylcholine. The success story of identifying epilepsy genes started with familial frontal lobe epilepsies and the discovery of CHRNA4, coding for a subunit of the nicotinergic acetylcholine receptor. Ever since this initial discovery, other gene identifications have reinforced a dysfunction in cholinergic signaling as one of the key mechanisms in genetic frontal lobe epilepsies. A recent study in the Annals of Clinical and Translational Neurology now identifies a novel gene for familial frontal lobe epilepsies, coding for an anchoring protein for acetylcholinesterase (AChE), the key enzyme breaking down acetylcholine. Continue reading
Tag Archives: CHRNB2
This is what you should know about KCNT1 – a 2015 update
Dual phenotypes. When KCNT1 was first described as a gene for Migrating Partial Seizures of Infancy in 2012, it wasn’t just a novel gene for epileptic encephalopathies. In parallel, the same gene was found to underlie a novel subtype of autosomal dominant nocturnal frontal lobe epilepsies (ADNFLE). At the time, this left us scratching our heads how a gene could cause such distinct, but entirely separate phenotypes. In a recent publication in Epilepsia, Møller and collaborators revisit the phenotypic spectrum of KCNT1. They find that both phenotypes can occur within a single family and that KCNT1 mutations can result in other phenotypes, adding to the mystery of KCNT1. Continue reading
Publications of the week – DOCK7, DEPDC5 and the yield of diagnostic gene panels
This week in epilepsy genetics. The following publications are a selection of what was published in the last week. These studies might be relevant for you because they both extend the phenotype of recent gene findings and describe novel genes that you should be aware of. Continue reading
Familial Partial Epilepsy with Variable Foci and mutations in DEPDC5
A long story, a complicated phenotype. Massive parallel sequencing technologies were an innovation in neurogenetics and made the discovery of many genes underlying familial epilepsies possible. However, some epilepsy syndromes turned out to be more “stubborn” than others. Now, in a back-to-back submission in Nature Genetics, two groups report on the gene underlying Familial Partial Epilepsy with Variable Foci (FPEVF). And no, it’s not an ion channel this time. Continue reading