Ring chromosome 20. If you are a regular reader of this blog, you’ll know that much of our focus is on single genes and their relationships to neurodevelopmental disorder. Admittedly, we may neglect cytogenetic conditions. However, in today’s post, we highlight ring chromosome 20 as a likely underdiagnosed genetic epilepsy with distinct clinical features.
Tag Archives: update
Five things to know about SLC6A1 in 2023
GAT1. The SLC6A1 gene remains one of the most common genetic etiologies to be associated with genetic generalized epilepsy and myoclonic atonic epilepsy. SLC6A1 has not received an update on our blog in a while, perhaps because unlike many other genes we see, this one has remained with a somewhat consistent clinical picture, albeit with much more detail and confidence than available back when the first papers were published in 2015-2018. Here are the five things to know about SLC6A1 in 2023.
