SLC6A1 encodes the GAT-1 transporter that is crucial for the re-uptake of GABA from synapses. A great deal is known about this mechanism, however there is still much that we can learn and explore. This requires research and further studies on the cellular function, localization and regulation of the GAT-1 transporter. The clinical spectrum of patients with SLC6A1 was up until recently thought to be mainly composed of epilepsy phenotypes. However, recent contributions to the field, as well as experience from the patient organization, suggest that the phenotypic spectrum may in fact be wider than previously thought. Exploration of phenotypes, aside from a typical MAE (myoclonic atonic epilepsy), would therefore be necessary and provide insight. There is also uncertainty in regard to variants of unknown significance due to phenotypes that do not match what is currently available in the literature. To aid geneticists and clinicians in the clinical work with patients, it is therefore crucial that we delineate the full phenotypic spectrum of SLC6A1.
Given this, the goal of this Research Topic is to, therefore, address our current understanding of SLC6A1 from the following aspects:
1) Cellular function - What do we know about the function of GAT-1 at this moment in time? Studies investigating cellular or animal models are crucial to address this question and further our understanding of SLC6A1-related disorders, as well as the development of precision medicine
2) Phenotypic spectrum. Recent studies have revealed that SLC6A1 does not equal MAE. In fact, many patients may not even have or develop epilepsy. To increase our understanding of the phenotypic spectrum, patient studies are necessary. Cohorts of smaller or larger sizes describing non-typical SLC6A1 patients are welcomed and would bring about new knowledge to researchers, geneticists, and clinicians alike
3) Precision medicine in SLC6A1. Where are we? Although there are ongoing trials with the drug Ravicti, what else is on the horizon? Case reports or animal experiments investigating novel compounds or re-purposing of already existing drugs would be of special interest. Additional aspects are welcomed.
We welcome contributions, including original research, reviews, perspectives, case reports, that address these Themes.
SLC6A1 encodes the GAT-1 transporter that is crucial for the re-uptake of GABA from synapses. A great deal is known about this mechanism, however there is still much that we can learn and explore. This requires research and further studies on the cellular function, localization and regulation of the GAT-1 transporter. The clinical spectrum of patients with SLC6A1 was up until recently thought to be mainly composed of epilepsy phenotypes. However, recent contributions to the field, as well as experience from the patient organization, suggest that the phenotypic spectrum may in fact be wider than previously thought. Exploration of phenotypes, aside from a typical MAE (myoclonic atonic epilepsy), would therefore be necessary and provide insight. There is also uncertainty in regard to variants of unknown significance due to phenotypes that do not match what is currently available in the literature. To aid geneticists and clinicians in the clinical work with patients, it is therefore crucial that we delineate the full phenotypic spectrum of SLC6A1.
Given this, the goal of this Research Topic is to, therefore, address our current understanding of SLC6A1 from the following aspects:
1) Cellular function - What do we know about the function of GAT-1 at this moment in time? Studies investigating cellular or animal models are crucial to address this question and further our understanding of SLC6A1-related disorders, as well as the development of precision medicine
2) Phenotypic spectrum. Recent studies have revealed that SLC6A1 does not equal MAE. In fact, many patients may not even have or develop epilepsy. To increase our understanding of the phenotypic spectrum, patient studies are necessary. Cohorts of smaller or larger sizes describing non-typical SLC6A1 patients are welcomed and would bring about new knowledge to researchers, geneticists, and clinicians alike
3) Precision medicine in SLC6A1. Where are we? Although there are ongoing trials with the drug Ravicti, what else is on the horizon? Case reports or animal experiments investigating novel compounds or re-purposing of already existing drugs would be of special interest. Additional aspects are welcomed.
We welcome contributions, including original research, reviews, perspectives, case reports, that address these Themes.
