Mt. Rainier. After our recent posts about the 2014 AES in Seattle, we received an email from Beth in Boston, highlighting some of the issues that genetic counselor face in epilepsy genetics when dealing with next gen sequencing data. Beth drew up a wish list for 2015 and asked us for comments. Here is a brief discussion between Beth and me on how high throughput epilepsy genetics sometimes comes to grinding halt in clinical practice. Continue reading
Tag Archives: genetic counseling
SCN1A – This is what you need to know in 2014
Update. As information on the epilepsies caused by SCN1A mutations are amongst our most frequently read posts, we thought that a quick update on the state-of-the art regarding SCN1A would be timely. These are the ten things about SCN1A that you should known in 2014. Continue reading
From unaffected to Dravet Syndrome – extreme SCN1A phenotypes in a large GEFS+ family
The two faces of SCN1A. Even though the range of phenotypes associated with mutations in SCN1A can be conceptualized as a continuum, there are usually two distinct entities in clinical practice: the severe, epileptic encephalopathy of Dravet Syndrome due to de novo mutations and the usually mild fever-related epilepsies in autosomal dominant GEFS+ families. While Dravet Syndrome can also be seen in some families with Genetic Epilepsy with Febrile Seizures Plus (GEFS+), this is a rare phenomenon; there is usually little overlap between Dravet Syndrome and GEFS+. Within the Israel Epilepsy Family Project, we came across such a family with overlapping phenotypes. This recently published large GEFS+ family probably has the widest phenotypic range reported to date. Continue reading
Relationship quality equals bandwidth – a love letter to my wife
Transatlanticism. This is the 165th post on this blog. My wife Katie read every single one of them, correcting my Denglish phrases, adding Oxford commas, and giving me valuable feedback from her unique perspective as a certified genetic counselor with a research background in epilepsy genetics. Today is Katie’s birthday, and I would like to dedicate this post to her by saying thank you and I love you. Katie and I met at the Epilepsy Research Centre in Melbourne, Australia. In 2007, while driving around Lake Alexandrina in South Australia on a road trip, we listened to Transatlanticism by Death Cab for Cutie. This song became emblematic of our relationship for the years to come while we maintained a long-distance relationship between the US (Katie’s Masters in genetic counseling) and Germany (my residency in Kiel). In 2009, after two years of living on different continents, we were finally reunited. If you were to ask me about the main lesson I took away from this time apart, I would sum this up in a single sentence: “Relationship quality equals bandwidth”. This post is a reflection on why quality matters in the communication between geographically separated individuals. It won’t be a purely romantic post. That’s not my style, and that’s ok with Katie – she has corrected this post, as well. Continue reading
