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SLC6A1-related disorders
History of SLC6A1 research
- 2015
-
Carvill et al.Discovery of SLC6A1 as cause for epilepsy with myoclonic-atonic seizures
- 2018
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Johannesen et al.Delineation of the phenotypic spectrum
- 2020
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Goodspeed et al.
Current knowledge of SLC6A1-related neurodevelopmental disorders
- 2021
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Mermer et al.Common molecular mechanisms of SLC6A1
SLC6A1-related disorders
SLC6A1-related disorders are a group of genetic disorders characterized by disease-causing variants in the SLC6A1 gene. Clinical manifestations of SLC6A1 disorders include mild to severe intellectual disability, behavioral disturbances such as autism and ADHD and seizures (mean onset 3.7 years), often absences, myoclonic and atonic seizures. One or more of these features can be present in each individual affected by an SLC6A1-related disorder.
SLC6A1 mechanism
Summary of clincal information in our registry
N = 130 patients
Epilepsy
Autism
N = 60 patients
PTV: Protein truncating variants
N = 90 patients
EMAS = Epilepsy with myoclonic-atonic seizures; GGE = Genetic generalized epilepsy; NAFE = Non-acquired focal epilepsy; EOAE = Early onset absence epilepsy; DEE = Developmental epileptic encephalopathy; CAE = Childhood absence epilepsy; TLE = Temporal lobe epilepsy; LGS = Lennox-Gastaut syndrome
EMAS = Epilepsy with myoclonic-atonic seizures; GGE = Genetic generalized epilepsy; NAFE = Non-acquired focal epilepsy; EOAE = Early onset absence epilepsy; DEE = Developmental epileptic encephalopathy; CAE = Childhood absence epilepsy; TLE = Temporal lobe epilepsy; LGS = Lennox-Gastaut syndrome
N = 78 patients
ID = Intellectual disability; DD = Developmental delay
Educational resources and patient advocacy groups
What are SLC6A1-related disorders?
What are SLC6A1-related disorders
If your family has received a diagnosis of
SLC6A1
-related disorders, you’ve probably never heard of it before. That’s okay. Your doctors probably haven’t either! But the Educational Science community is here to help.
This 4-minute “What are
SLC6A1
-related disorders?” explainer video helps families learn about these disorders in plain language. You’ll learn:
- Scientific terms (such as genes, proteins, and variants/mutations) that will help you understand SLC6A1-related disorders
- What causes SLC6A1-related disorders
- How SLC6A1-related disorders are diagnosed
- The symptoms of SLC6A1-related disorders
- Where to find support
Family organizations
Related organizations
Tutorials
Analyse your variants
Enter variant
Variant Information
Patient information
Individuals with the same variant in the SLC6A1 Portal
Custom variant analysis
Explore what phenotypes have been associated with patients in our cohort that have a similar variant.
GAT1 3D structure
Patient and Control variants on GAT1 3D structure
Hotzones on GAT1 3D structure
wt: wild-type
Analyse your variants
Filter Registry
Custom variant exploration
Selected variants are displayed in 1D (lolliplot) and 3D (protein structure).
The following transcript was used:
SLC6A1
: ENST00000287766
PTV: Protein truncating variant
Domain-wide comparison of patient vs. population variants
Abbreviations:
TM1/6: Transmembrane domains 1/6; TMD-other: Transmembrane domain other; EL2/3/4: Extracellular loops 2/3/4; OR: Odds ratio.
EMAS = Epilepsy with myoclonic-atonic seizures; GGE = Genetic generalized epilepsy; UG = Unclassified general; NAFE = Non-acquired focal epilepsy; EOAE = Early onset absence epilepsy; DEE = Developmental epileptic encephalopathy; CAE = Childhood absence epilepsy; TLE = Temporal lobe epilepsy; LGS = Lennox-Gastaut syndrome; No SZ = No seizures; NA = Not available
DD: Developmental delay, ID: Intellectual disability
Abbreviations:
TM1/6: Transmembrane domains 1/6; TMD-other: Transmembrane domain other; EL2/3/4: Extracellular loops 2/3/4; wt: wild-type.
GAT1 3D structure with functionally tested variants
Hotzones on GAT1 3D structure
GAT1 3D structure with key features
Abbreviations:
GAT1: GABA transporter type 1; TM1/6: Transmembrane domains 1/6; wt: wild-type.
Other measured parameter
About
Portal version
This is the alpha version of the SLC6A1 Portal
The SLC6A1 Portal is a coalition of investigators seeking to aggregate and harmonize data generated to study SLC6A1-related disorders, and to make summary data interactively accessible for the wider scientific community, while providing educational resources for everyone. The goals of this project are:
- Providing information on SLC6A1-related disorders
- Supporting research on SLC6A1-related disorders
- Facilitating recruitment of individuals to the global SLC6A1 registries
- Providing support in variant interpretation and classification
- Visualizing data from the global SLC6A1 registries
- Linking researchers, clinicians and families
Teams and People
The current version of the SLC6A1 Portal has been developed by an international team of researchers and clinicians:
Team Leaders
Dennis Lal (Cleveland, US): General concept, web development, bioinformatics, video production
Eduardo Perez-Palma (Santiago, Chile): Bioinformatics
Rikke Møller (Dianalund, DK): Clinical & genetic data
Kimberly Goodspeed (Dallas, US): Clinical & genetic data
Katty (Jing-Qiong) Kang (Vanderbilt, US): Molecular data
Clinical & Genetic Data
Katrine Johannesen
Alexander Deng
Ángel Aledo-Serrano
Artem Borovikov
Maina Kava
Arjan Bouman
MJ Hajianpour
Deb Pal
Line Futtrup
Thomas Balslev
Anna Abuli Vidal
Leslie Danvoye
Damien Lederer
Clinical & Genetic Data
Tugce Balci
Marc Engelen
Eveline Hagebeuk
Marwan Shinawi
Alexis Heidlebaugh
Kathryn Oetjens
Trevor Hoffman
Pasquale Striano
Sarah Drewes
Kalene van Engelen
Katherine Howell
Jean Khoury
Molecular Data
Arthur Wuster
Felicia Mermer
Marena Trinidad
Steven Froelich
Web Development
Arthur Stefanski
Tobias Brünger
Eduardo Perez-Palma
Marie Macnee
Chiara Klöckner
Bioinformatics
Tobias Brünger
Cornelius Gati
Eduardo Perez-Palma
Marie Mcnee
Patrick May
Chiara Klöckner
Ludovica Montanucci
Johannes Lemke
Video
Arthur Stefanski
Amber Freed
Imprint
We object to any commercial use and disclosure of data.
Copyright and use: The authors grants you the right of use to make a private copy for personal purposes. However, you are not entitled to change and/or pass on the materials or publish them yourself. Upon request, you will receive free information about the personal data stored about you. To do so, please contact the administrator.
No liability: The contents of this web project have been carefully checked and created to the best of our knowledge. But for the information presented here is no claim to completeness, timeliness, quality and accuracy. No responsibility can be accepted for any damage caused by reliance on or use of the contents of this website.
Terms of Use
All data presented here are publicly available for the benefit of the wider biomedical community. You can freely explore the data, and we encourage the use and publication of results generated from these data. However, we encourage you to contact us before embarking on analyses to check if your proposed analysis overlaps with work currently underway by our team. Further, we request that you actively acknowledge and give attribution to the SLC6A1 Portal project, and link back to the relevant page, wherever possible. All users of our data agree to not attempt to reidentify participants. Our data set has been subjected to extensive quality control, but may be imperfect so errors may remain. If you spot any results that seem impossible, or have suggestions for SLC6A1 Portal improvements:
Contact us that we can improve.