NaV1.2 Today is International SCN2A Day, 2/24/2023. SCN2A is on the long arm (q arm) of chromosome 2 at position 24.3, hence 2/24. In honor of this day, we wanted to refresh the SCN2A gene page, which was long overdue. Much has been learned since our initial post in 2015, so in addition to the gene page, here are three things to know about SCN2A in 2023.
Tag Archives: rare diseases
This was epilepsy genetics in 2021 – five things to remember
Looking back. Admittedly, I have not written an end-of-the-year review for a quite some time. However, there were a few notable moments in epilepsy genetics in 2021 that I think were worth remembering. The second year of the COVID-19 pandemic started out as a year of recovery and readjustment, only to run into unanticipated supply chain issues and novel COVID variants hanging over our transition into 2022. The scientific community was affected by these developments in different ways that made progress of science somewhat unpredictable and uneven. 2021 was the year when the phrase “unprecedented times” became stale and overused. Here are five things to remember from 2021, which will be remembered as part of a transitional phase in epilepsy genetics. Continue reading
A metabolic disorder masquerading as adult-onset focal epilepsy
Bella Italia. What a strange day. I am on “emergency duty” for the first day of kindergarten for our daughter. Since the kindergarten is a few meters down the road, I decided to stay home. However, as our windows are currently being replaced, I had nowhere to go. I ended up in a small cafe nearby that I hadn’t noticed before, which turned out to be authentically Italian. Between cornetto e cappuccino, I tried to catch up with some of my blogging duties. For quite some time, I had carried around a case report in the Orphanet Journal of Rare Diseases that I eventually managed to read. In this paper, the authors report on a sib pair with alpha-methylacyl-coA-racemase deficiency (AMACRD). Alpha what?? Exactly. I hadn’t heard of this before, either. However, what raised my interest was the phenotype of one of the patients – adult-onset focal epilepsy. Continue reading
