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.
Tag Archives: SLC6A1
AES 2018 Recap: The Epilepsy Community Invades the Big Easy
NOLA.The American Epilepsy Society (AES) has wrapped up its annual meeting, which was held this year in New Orleans. AES is the largest meeting of epilepsy professionals working in clinical practice, academia, industry, and advocacy. It is a meeting I always look forward to as an opportunity to connect with friends and colleagues from across the world. As we all pack away our beads and digest our beignets, I would like to reflect on some of the major messages I, as an epilepsy genetics clinician and researcher, took away from this year’s AES annual meeting. Continue reading
SLC6A1 – a generalized epilepsy phenotype emerging
GAT1. When we first identified SLC6A1 in 2015, we were surprised that a significant proportion of patients with disease-causing variants in this gene had a rare epilepsy phenotype referred to as Myoclonic Astatic Epilepsy (MAE). Typically, at the time of gene discovery, it is often unclear how far the phenotypic spectrum expands. In a recent publication in Epilepsia, we reviewed the phenotype of 34 patients with SCL6A1-related epilepsy. Surprisingly, in contrast to many other epilepsy genes that showed a broad and occasionally non-specific phenotypic range, the SLC6A1-related phenotype expands beyond MAE, but remains centered around generalized epilepsies with a predominance of absence seizures and atonic seizures. It is a gene that has started to write its own story. Continue reading
