Exome sequencing in epileptic encephalopathies – a classification of de novo mutations

I don’t often reblog, but this article was particularly interesting as a parent of child with epilepsy. What does it mean? My summarized thoughts are twofold. One, support networks could be established based on findings. Despite what is available now, we as a family feel very alone. Making the connection is the key. Two, maybe additional research along with clinic trials could guide therapy decisions. The more I learn about this topic, the more I understand that very little overall is known about why some epilepsies occur.
-Ken Lininger

Beyond the Ion Channel

Trio-sequencing your clinic. From the perspective of a child neurology clinic, I often wonder how much information we would gain if we performed trio exome sequencing for de novo mutations systematically in all our patients with difficult-to-treat epilepsies. Many of these patients have epilepsies that are difficult to classify and they have not been included in our existing EuroEPINOMICS working groups on defined syndromes. Now, a recent publication in Epilepsia gives us an idea what we will find if we perform family-based exome sequencing in patients with unclassified epileptic encephalopathies. Basically, you will find SCN1A and CDKL5 plus mutations in several genes that are likely pathogenic. But there is much more to this issue, which motivated me to come up with a classification scheme for epilepsy-related de novo events. 

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