El día a día de Hugo y su familia con la enfermedad rara SLC6A1 dozz.es/c4htq2
El día a día de Hugo y su familia con la enfermedad rara SLC6A1
dozz.es
April 6, 2026 at 2:19 PM
El día a día de Hugo y su familia con la enfermedad rara SLC6A1 dozz.es/c4htq2
Nuestr@s niñ@s nacieron con #EnfermedadRara por gen #SLC6A1 padeciendo "#EncefalopatíaEpiléptica y del desarrollo".
CASOS (estimados):
🇪🇸 12 (1.250), 🌍 <500 (>210k)
RETOS:
1️⃣ 👀 Visibilizar
2️⃣ 🔬 Investigar
3️⃣ ⚖️ Derechos
4️⃣ 🫂 Esperanza
+info slc6a1-spain.org
CASOS (estimados):
🇪🇸 12 (1.250), 🌍 <500 (>210k)
RETOS:
1️⃣ 👀 Visibilizar
2️⃣ 🔬 Investigar
3️⃣ ⚖️ Derechos
4️⃣ 🫂 Esperanza
+info slc6a1-spain.org
November 20, 2024 at 9:03 AM
Nuestr@s niñ@s nacieron con #EnfermedadRara por gen #SLC6A1 padeciendo "#EncefalopatíaEpiléptica y del desarrollo".
CASOS (estimados):
🇪🇸 12 (1.250), 🌍 <500 (>210k)
RETOS:
1️⃣ 👀 Visibilizar
2️⃣ 🔬 Investigar
3️⃣ ⚖️ Derechos
4️⃣ 🫂 Esperanza
+info slc6a1-spain.org
CASOS (estimados):
🇪🇸 12 (1.250), 🌍 <500 (>210k)
RETOS:
1️⃣ 👀 Visibilizar
2️⃣ 🔬 Investigar
3️⃣ ⚖️ Derechos
4️⃣ 🫂 Esperanza
+info slc6a1-spain.org
4-Phenylbutyrate for STXBP1 and SLC6A1. Safety, tolerability, seizure, and EEG outcomes. A case series at 2 centers. https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v1
4-Phenylbutyrate for STXBP1 and SLC6A1. Safety, tolerability, seizure, and EEG outcomes. A case series at 2 centers. https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v1
Introduction Pathogenic mutations in STXBP1 and SLC6A1 can cause developmental delay and epilepsy. 4
www.medrxiv.org
November 9, 2024 at 12:26 AM
4-Phenylbutyrate for STXBP1 and SLC6A1. Safety, tolerability, seizure, and EEG outcomes. A case series at 2 centers. https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v1
Rare diseases like SLC6A1-related disorders pose unique challenges, from limited awareness to insufficient funding for research.
#raredisease
www.linkedin.com/posts/ampate...
Sam Patel, PhD on LinkedIn: SLC6A1 Connect and the Challenge of Rare Disease - SLC6A1 Connect
Rare diseases like SLC6A1-related disorders pose unique challenges, from limited awareness to insufficient funding for research.
This article highlights the…
www.linkedin.com
January 27, 2025 at 3:04 AM
Rare diseases like SLC6A1-related disorders pose unique challenges, from limited awareness to insufficient funding for research.
#raredisease
www.linkedin.com/posts/ampate...
Addressing important issues for gene therapy in developmental brain disorders!
Steven J. Gray & team show AAV9/SLC6A1 gene therapy rescues abnormal EEG patterns and cognitive behavioral deficiencies in Slc6a1-/- mice:
https://www.jci.org/articles/view/182235
@utswtxid.bsky.social
Steven J. Gray & team show AAV9/SLC6A1 gene therapy rescues abnormal EEG patterns and cognitive behavioral deficiencies in Slc6a1-/- mice:
https://www.jci.org/articles/view/182235
@utswtxid.bsky.social
February 11, 2025 at 4:33 PM
Addressing important issues for gene therapy in developmental brain disorders!
Steven J. Gray & team show AAV9/SLC6A1 gene therapy rescues abnormal EEG patterns and cognitive behavioral deficiencies in Slc6a1-/- mice:
https://www.jci.org/articles/view/182235
@utswtxid.bsky.social
Steven J. Gray & team show AAV9/SLC6A1 gene therapy rescues abnormal EEG patterns and cognitive behavioral deficiencies in Slc6a1-/- mice:
https://www.jci.org/articles/view/182235
@utswtxid.bsky.social
After Maxwell was born with a rare genetic disease, Amber Freed quit her job and raised millions of dollars to give him a shot at a better life. https://www.texasmonthly.com/news-politics/mom-trying-to-cure-rare-genetic-disease-slc6a1-ut-southwestern/
The Texas Mom Who Custom-Ordered Mice to Save Her Son
After Maxwell was born with a rare genetic disease, Amber Freed quit her job and raised millions of dollars to give him a shot at a better life.
www.texasmonthly.com
May 10, 2026 at 11:25 PM
After Maxwell was born with a rare genetic disease, Amber Freed quit her job and raised millions of dollars to give him a shot at a better life. https://www.texasmonthly.com/news-politics/mom-trying-to-cure-rare-genetic-disease-slc6a1-ut-southwestern/
Fue un placer conocerte en la conferencia Slc6a1 en LA, 2024. Soy abuela de tres niños con esta afección. Asistí a la conferencia con mi hija. Todos ustedes son increíbles defensores de sus hijos! ¡Qué bueno verte aquí en el cielo azul!
February 5, 2025 at 7:43 PM
Fue un placer conocerte en la conferencia Slc6a1 en LA, 2024. Soy abuela de tres niños con esta afección. Asistí a la conferencia con mi hija. Todos ustedes son increíbles defensores de sus hijos! ¡Qué bueno verte aquí en el cielo azul!
Nationwide Children’s gene therapy shows early promise after Taysha pullback
endpoints.news/nationwide-c...
endpoints.news/nationwide-c...
Nationwide Children’s gene therapy shows early promise after Taysha pullback
Nationwide Children's Hospital delivers first gene therapy for SLC6A1 disorder to 8-year-old Maxwell Freed, showing early promise in treating seizures and developmental delays.
endpoints.news
December 4, 2025 at 6:24 PM
Nationwide Children’s gene therapy shows early promise after Taysha pullback
endpoints.news/nationwide-c...
endpoints.news/nationwide-c...
Discover the symptoms of SLC6A1 Disorder and how they can impact daily life. New treatments are emerging that may offer hope for patients and caregivers. #epilepsyexplained #epilepsy 💜.
SLC6A1 Disorder Review Covers Symptoms And New Treatments - Epilepsy Explained 💜
Learn SLC6A1 Disorder Symptoms, what they may mean for daily life, and how new treatments may help patients and caregivers.
epilepsyexplained.com
May 23, 2026 at 11:45 PM
Discover the symptoms of SLC6A1 Disorder and how they can impact daily life. New treatments are emerging that may offer hope for patients and caregivers. #epilepsyexplained #epilepsy 💜.
A paper using RRID:MMRRC_000426-UCD was just published in Journal of Clinical Investigation see "AAV9/SLC6A1 gene therapy rescues abnormal EEG patterns and cognitive behavioral deficiencies in Slc6a1–/– mice". Thank you for making your methods matter! #reproducibility #accelerateopenscience
doi.org
February 20, 2025 at 8:01 AM
A paper using RRID:MMRRC_000426-UCD was just published in Journal of Clinical Investigation see "AAV9/SLC6A1 gene therapy rescues abnormal EEG patterns and cognitive behavioral deficiencies in Slc6a1–/– mice". Thank you for making your methods matter! #reproducibility #accelerateopenscience
High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, SLC6A1 https://www.biorxiv.org/content/10.1101/2025.11.06.687003v1
November 8, 2025 at 2:15 AM
High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, SLC6A1 https://www.biorxiv.org/content/10.1101/2025.11.06.687003v1
Pathogenic ultra-rare variants in SLC6A1, SLC6A11, GAD1 and GAD2 are new & recurrent GABAergic loci for GGE syndromes. #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
April 8, 2025 at 8:19 PM
Pathogenic ultra-rare variants in SLC6A1, SLC6A11, GAD1 and GAD2 are new & recurrent GABAergic loci for GGE syndromes. #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
RRIDs were included in this paper. We value the author's support of reproducibility. #accelerateopenscience #reproducibility #reproducibility
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
doi.org
December 15, 2025 at 8:00 AM
RRIDs were included in this paper. We value the author's support of reproducibility. #accelerateopenscience #reproducibility #reproducibility
Unveiling the crucial role of betaine: Modulation of GABA homeostasis via SLC6A1 transporter (GAT1) https://www.biorxiv.org/content/10.1101/2024.04.30.591809v1
Unveiling the crucial role of betaine: Modulation of GABA homeostasis via SLC6A1 transporter (GAT1) https://www.biorxiv.org/content/10.1101/2024.04.30.591809v1
Betaine is an endogenous osmolyte that exhibits therapeutic potential by mitigating various neurolog
www.biorxiv.org
May 2, 2024 at 12:15 AM
Unveiling the crucial role of betaine: Modulation of GABA homeostasis via SLC6A1 transporter (GAT1) https://www.biorxiv.org/content/10.1101/2024.04.30.591809v1
Unveiling the crucial role of betaine: Modulation of GABA homeostasis via SLC6A1 transporter (GAT1) https://www.biorxiv.org/content/10.1101/2024.04.30.591809v1
Unveiling the crucial role of betaine: Modulation of GABA homeostasis via SLC6A1 transporter (GAT1) https://www.biorxiv.org/content/10.1101/2024.04.30.591809v1
Betaine is an endogenous osmolyte that exhibits therapeutic potential by mitigating various neurolog
www.biorxiv.org
May 2, 2024 at 12:15 AM
Unveiling the crucial role of betaine: Modulation of GABA homeostasis via SLC6A1 transporter (GAT1) https://www.biorxiv.org/content/10.1101/2024.04.30.591809v1
Promising study from Zach Grinspan and colleagues for #STXBP1 patients 🧪
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
4-Phenylbutyrate for STXBP1 and SLC6A1. Safety, tolerability, seizure, and EEG outcomes. A case series at 2 centers
Introduction Pathogenic mutations in STXBP1 and SLC6A1 can cause developmental delay and epilepsy. 4-phenylbutyrate (4PB), a drug used for urea cycle disorders, rescues dysfunction in pre-clinical mod...
www.medrxiv.org
November 29, 2024 at 11:24 PM
Promising study from Zach Grinspan and colleagues for #STXBP1 patients 🧪
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
This Frisco mom launched a foundation, raised millions of dollars, and custom-ordered mice to give her child a shot at a better life. https://www.texasmonthly.com/news-politics/mom-trying-to-cure-rare-genetic-disease-slc6a1-ut-southwestern/
The Texas Mom Who Custom-Ordered Mice to Save Her Son
After Maxwell was born with a rare genetic disease, Amber Freed quit her job and raised millions of dollars to give him a shot at a better life.
www.texasmonthly.com
April 8, 2026 at 4:15 PM
This Frisco mom launched a foundation, raised millions of dollars, and custom-ordered mice to give her child a shot at a better life. https://www.texasmonthly.com/news-politics/mom-trying-to-cure-rare-genetic-disease-slc6a1-ut-southwestern/
Did you know that 1 in 10 Americans lives with a rare disease, yet only 5% of rare diseases have FDA-approved treatments? For many families, the journey to a diagnosis takes years, delaying critical care and treatment.
slc6a1connect.org/2025/02/27/u...
slc6a1connect.org/2025/02/27/u...
Understanding Rare Diseases Beyond the Numbers - SLC6A1 Connect
As we continue our exploration of rare diseases, Dr. Sam Patel examines their global impact, diagnostic challenges, and treatment gaps, offering insights
slc6a1connect.org
February 27, 2025 at 6:06 PM
Did you know that 1 in 10 Americans lives with a rare disease, yet only 5% of rare diseases have FDA-approved treatments? For many families, the journey to a diagnosis takes years, delaying critical care and treatment.
slc6a1connect.org/2025/02/27/u...
slc6a1connect.org/2025/02/27/u...
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models https://www.medrxiv.org/content/10.1101/2024.09.27.24314092v1
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models https://www.medrxiv.org/content/10.1101/2024.09.27.24314092v1
Variants of uncertain significance pose a difficult diagnostic and therapeutic problem, even when th
www.medrxiv.org
September 28, 2024 at 9:40 PM
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models https://www.medrxiv.org/content/10.1101/2024.09.27.24314092v1
8-year-old Maxwell, with a disease so rare it didn’t even have a name, just became the first to receive a breakthrough gene therapy thanks to relentless research and breakthrough gene therapy. Hope in action. 💙 #raredisease #epilepsy #gentics
Full story: https://bit.ly/4oRXtWV
Full story: https://bit.ly/4oRXtWV
8-Year-Old Has Disease So Rare It Doesn't Have a Name. Now He's First in the World to Receive Treatment (Exclusive)
Amber Freed tells PEOPLE how she worked for years to find a treatment for her son Maxwell's SLC6A1 diagnosis, and finally got the treatment administered in September, making history in the process.
bit.ly
December 19, 2025 at 6:13 PM
8-year-old Maxwell, with a disease so rare it didn’t even have a name, just became the first to receive a breakthrough gene therapy thanks to relentless research and breakthrough gene therapy. Hope in action. 💙 #raredisease #epilepsy #gentics
Full story: https://bit.ly/4oRXtWV
Full story: https://bit.ly/4oRXtWV
We do not want to break the ✨magic of the name but,
as a #raredisease association we are here to advocate for the recognition of new 🧬 #geneticdiseases.
In our case, the disease is associated with #Doose syndrome but caused by the #SLC6A1 mutation and not so easy to spell for a name 😅
as a #raredisease association we are here to advocate for the recognition of new 🧬 #geneticdiseases.
In our case, the disease is associated with #Doose syndrome but caused by the #SLC6A1 mutation and not so easy to spell for a name 😅
December 10, 2024 at 11:49 AM
We do not want to break the ✨magic of the name but,
as a #raredisease association we are here to advocate for the recognition of new 🧬 #geneticdiseases.
In our case, the disease is associated with #Doose syndrome but caused by the #SLC6A1 mutation and not so easy to spell for a name 😅
as a #raredisease association we are here to advocate for the recognition of new 🧬 #geneticdiseases.
In our case, the disease is associated with #Doose syndrome but caused by the #SLC6A1 mutation and not so easy to spell for a name 😅
ICYMI: From #lab discovery to #clinicaltrial in just 3 years — an FDA-approved drug for one disease is now giving hope to kids with rare epilepsies like SLC6A1 and STXBP1.
Read more: bit.ly/3Jwf5bS
#epilepsy #raredisease #epilepsytreatment #fdaapproved
Read more: bit.ly/3Jwf5bS
#epilepsy #raredisease #epilepsytreatment #fdaapproved
Serendipity in Science: New Uses for Old Drugs
Repurposing currently FDA-approved drugs fast-tracks treatments for epilepsy, including the treatment of rare forms of epilepsy.
bit.ly
August 26, 2025 at 5:05 PM
ICYMI: From #lab discovery to #clinicaltrial in just 3 years — an FDA-approved drug for one disease is now giving hope to kids with rare epilepsies like SLC6A1 and STXBP1.
Read more: bit.ly/3Jwf5bS
#epilepsy #raredisease #epilepsytreatment #fdaapproved
Read more: bit.ly/3Jwf5bS
#epilepsy #raredisease #epilepsytreatment #fdaapproved
On Saturday, I joined Stuart Place to cycle from Melbourne to the "Moon and Back" to raise funds for epilepsy research. Stu's son Will lives with a rare condition known as SLC6A1. Every dollar raised goes towards finding precision medicines to treat this rare disease. florey.edu.au/news/2025/01...
Converting pedal power to fund epilepsy research | News | The Florey
A dad's will: Melbourne father Stu Place is riding his bike to "the moon and back" to raise funds for Florey epilepsy research to help his son Will.
florey.edu.au
January 6, 2025 at 4:26 AM
On Saturday, I joined Stuart Place to cycle from Melbourne to the "Moon and Back" to raise funds for epilepsy research. Stu's son Will lives with a rare condition known as SLC6A1. Every dollar raised goes towards finding precision medicines to treat this rare disease. florey.edu.au/news/2025/01...
Mutations in the SLC6A1 gene can disrupt proper folding and trafficking of the hGAT1 protein, impairing GABA uptake and contributing to seizure disorders. Small molecules show potential to restore function. doi.org/g9ptzv
Proper folding is important for a protein associated with seizures
Just as folds are important in the ancient art of origami, they are also vital for the function of many proteins. Mutations in a protein associated with conditions such as seizures and autism spectrum disorder prevent it from folding correctly and hinder its movement to the cell surface, where it would normally do its job.
medicalxpress.com
June 10, 2025 at 6:02 AM
Mutations in the SLC6A1 gene can disrupt proper folding and trafficking of the hGAT1 protein, impairing GABA uptake and contributing to seizure disorders. Small molecules show potential to restore function. doi.org/g9ptzv