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. 

View original post 932 more words

Epilepsy Surgery – Finally Here

October 24, 2012

We took Savanna to the Memorial Herman Hospital today to start a procedure known largely as epilepsy surgery.  In her case, she will have a temporoparietal-occipitalresection with the possibility of electrocorticography to better define the dotted lines prior to the resection.  Basically, once she is open, they will place electrodes to monitor brain activity. (This requires her head to be shaved  L.)  If they see a pattern of abnormality that correlates with diagnostic results to date, the resection takes place immediately.  If not, then electrocorticography is implemented.  This is a high-resolution grid of subdural electrodes placed directly on the brain tissue in question.  They close her up with the grid in place and then monitor her for a few days to capture the abnormal activity.  The doctor has indicated there is a 50-50 chance of going through with resection today.  Then the resection takes place and will most likely be much larger than originally expected. 

It has been a long 8 weeks waiting for this day.  One of the nurses misread or misunderstood the orders and actually said “So, she is her for a resection on the right hemisphere…”  A cold chill ran down my spine and Rebecca almost threw up, as she was actually in for a resection on the left hemisphere.  It wasn’t funny and clearly a mistake by that nurse.  We insisted that they get an indelible pen and mark the left side of her head.  That aside, and even after speaking with the key doctors involved in her care today, the emotions we felt are difficult to describe in words.  It was still very difficult to watch her taken away on that gurney.  Ironically, brain surgery is relatively low risk compared to other invasive procedures.  This is not what we thought when we initially were considering brain surgery.

11:45am, so here we are, waiting.  The anesthesiologists are having trouble getting access to veins and an artery required for the surgery.  So she remains unconscious on the table as they work on her.  We signed additional consent for a surgeon to install a central line should they not get access as required.  


Rebecca’s parents and my mother have been with us for a couple weeks now waiting for this surgery to happen.  It has been really nice to have so much love and help around our family during this time.  I have been able to spend a little time going through pictures and videos that have been piling up, so to speak, on the computer.  I recently updated our website, www.kenandrebecca.com with short videos and pictures.  The picture compilation is actually a video and plays nicely on apple devices. 


Tristan and Brandon are doing great.  I have attached some pictures from the last 2 weeks.  Austin got his first hair cut, and there are some nice pictures of that experience.  He looks like a little man now.  Savanna has had a great last few days as her fungal diaper rash cleared up nicely.  Her seizure control on the Onfi seems to be good, but her dose is really high and it is becoming clear she is over-sedated.  I backed down the Onfi, and she is much more engaged, smiles, and laughs a lot.  A new tooth on her bottom jaw broke through, and this too has seemed to alleviate some of her agitation. Overall, we are hanging in there as parents.  The experience is difficult at best, and this very
moment is surreal.

Mom and Dad

(Ken and Rebecca Lininger)



Thank you Ken for inviting me to join this. I know there is so much that goes on in the life of the Liningers that we don’t know about. Thank you so much for sharing. I am so excited to get to see you and ALL the kids soon!