The latest medical news on Clinical Genetics

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about clinical genetics gathered by our medical AI research bot.

The selection below is filtered by medical specialty. Registered users get access to the Plexa Intelligent Filtering System that personalises your dashboard to display only content that is relevant to you.

Want more personalised results?

Request Access
Epilepsy Genomics

The Rares. The increasing number of genetic diagnoses in rare epilepsies has resulted in the formation of a large number of non-profit organization...

Epilepsy Genomics

rs6732655. I acknowledge that the title of this blog post looks like my keyboard is broken, but please bear with me. Last month, I blogged about a ...

Epilepsy Genomics

Semantic similarity. The phenotype era in the epilepsies has now officially started. While it is possible for us to generate and analyze genetic da...

Epilepsy Genomics

CNV. There are different forms of genetic variation and historically, our ability to query the entire exome or genome is a relatively recent develo...

Epilepsy Genomics

EMR. When we consider the natural history of rare diseases like the genetic epilepsies, we typically think about a lack of longitudinal data that c...

Epilepsy Genomics

WGS. Whole-genome sequencing is increasingly used to understand the cause of rare diseases in a research and diagnostic context. However, while the...

Epilepsy Genomics

Pathogenic or benign. In 2018, ICK, coding for Intestinal-Cell Kinase, was reported as a novel causative gene in Juvenile Myoclonic Epilepsy (JME) ...

Epilepsy Genomics

Synaptic. Identifying the genetic changes underlying severe childhood epilepsies is one of the key steps for predicting outcomes and developing bet...

Epilepsy Genomics

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 Neuro...

Epilepsy Genomics

The Epi25 study. On August 1, the Epi25 study was published in the American Journal of Human Genetics. Epi25 is the major, international effort to ...

Epilepsy Genomics

Telehealth. Yes, looking at my last post, this blog has been silent for a while. With the COVID-19 pandemic ongoing, it has been difficult to find ...

Epilepsy Genomics

The missing ion channel. A little more than two years ago, we wrote about our discovery of SCN3A as a novel disease gene in epileptic encephalopath...