How common is rare? A population-based study into genetic childhood epilepsies

What is the most common monogenic cause of epilepsy? This is a question we often ask students and trainees who rotate with us in our Epilepsy Neurogenetics Clinic. This is not meant to be a trick question, and the answer we previously sought was based largely on published studies, estimates of population frequency of individual genetic epilepsies, and our own clinical experience. And we are sometimes surprised by how skewed such a view can be. Now, a new study by Symonds and colleagues answers the question of population-incidence of common genetic epilepsy syndromes through a prospective population-based cohort study in Scotland. This study provides important data on risk factors that are more likely to predict a genetic diagnosis in infants and young children with seizures and answers the question of which genetic epilepsy is most common. I was initially surprised, but really not surprised at all, by the answer. Continue reading

Three novel aspects about epilepsy gene panels

Gene panels. Epilepsy gene panels have emerged as the first line genetic test for most suspected genetic epilepsies. Gene panels for childhood epilepsies are among the most common genetic tests ordered in a pediatric setting. While the role of gene panel testing is well established, the ideal design of gene panels remains an ongoing issue. A recent publication in the Journal of Medical Genetics provides additional evidence for the role of gene panel analysis in patients with genetic epilepsies. There are three aspects of this study that are particularly noteworthy. Continue reading

Beyond SCN1A – Copy Number Variations in fever-associated epilepsies

Fever and epilepsy. When it comes to epilepsy and fever, either Febrile Seizures or Dravet Syndrome are usually the most prominent topics on our blog. However, in addition to these syndromes, there various other epilepsies that have fever-related seizures as a prominent feature. In a recent publication in Epilepsia, we investigated the role of microdeletions in a group of patients with prominent fever-associated epilepsies. Our findings suggest that fever-associated epilepsy syndromes may be a presentation of known microdeletion syndromes. Continue reading

SCN8A encephalopathy – and how it differs from Dravet Syndrome

Nav1.6. For some reason, SCN8A always met some resistance. In contrast to other epilepsy genes, it took a while for the community to embrace this gene as a genuine cause of epileptic encephalopathies. A recent publication in Neurology now investigates the phenotypic spectrum of SCN8A encephalopathy – and points out important features that distinguish this condition from Dravet Syndrome. Continue reading

These are the top 10 epilepsy genes of 2014

Top 10. 2014 has been a very productive year in epilepsy gene discovery and with our final blog post this year, we wanted to provide a brief overview of what has been pertinent this year. From the multitude of novel genes identified this year, here are the 10 most relevant findings – including some genes that you probably didn’t expect. Continue reading

Story of a genetic shape-shifter: SCN2A in benign seizures, autism and epileptic encephalopathy

The other sodium channel gene. The week before Christmas, the Kiel group identified its first patient with SCN2A encephalopathy. At the same time, a questionably benign SNP in the same gene is haunting our Israel Epilepsy Family Project. Time to review the mysterious SCN2A gene that initially entered the scene as a candidate for a rare, benign familial epilepsy syndrome – only to return as one of the most prominent genes for autism, intellectual disability, and epileptic encephalopathies to date. Continue reading