Rikke S. Møller
@rikkesmoller.bsky.social
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰
I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
Exciting Announcement‼️
Thrilled to be working on the program for the 7th Dianalund International Conference on #Epilepsy 🤩
⭐️ The topic is "Developmental and Epileptic Encephalopathies: From Mechanisms to Action" 🤩
📅 May 6-8, 2026, in Køge, Denmark 🇩🇰
#DICE2026
@torierobinson.bsky.social
Thrilled to be working on the program for the 7th Dianalund International Conference on #Epilepsy 🤩
⭐️ The topic is "Developmental and Epileptic Encephalopathies: From Mechanisms to Action" 🤩
📅 May 6-8, 2026, in Køge, Denmark 🇩🇰
#DICE2026
@torierobinson.bsky.social
July 5, 2025 at 3:40 PM
Exciting Announcement‼️
Thrilled to be working on the program for the 7th Dianalund International Conference on #Epilepsy 🤩
⭐️ The topic is "Developmental and Epileptic Encephalopathies: From Mechanisms to Action" 🤩
📅 May 6-8, 2026, in Køge, Denmark 🇩🇰
#DICE2026
@torierobinson.bsky.social
Thrilled to be working on the program for the 7th Dianalund International Conference on #Epilepsy 🤩
⭐️ The topic is "Developmental and Epileptic Encephalopathies: From Mechanisms to Action" 🤩
📅 May 6-8, 2026, in Køge, Denmark 🇩🇰
#DICE2026
@torierobinson.bsky.social
Publication alert 📢 The genetic and phenotypic spectrum of #GABRB1-related disorders 🧠
We present a comprehensive analysis of GABRB1 variants, by revealing their functional implications, establishing genotype-phenotype correlations & evaluating treatment response ‼️
academic.oup.com/brain/advanc...
We present a comprehensive analysis of GABRB1 variants, by revealing their functional implications, establishing genotype-phenotype correlations & evaluating treatment response ‼️
academic.oup.com/brain/advanc...
The genetic and phenotypic spectrum of GABRB1-related disorders
Millevert et al. studied genetic variants in the GABRB1 gene associated with epilepsy. Analysis of functional effects and clinical data from 19 individuals
academic.oup.com
June 17, 2025 at 8:04 PM
Publication alert 📢 The genetic and phenotypic spectrum of #GABRB1-related disorders 🧠
We present a comprehensive analysis of GABRB1 variants, by revealing their functional implications, establishing genotype-phenotype correlations & evaluating treatment response ‼️
academic.oup.com/brain/advanc...
We present a comprehensive analysis of GABRB1 variants, by revealing their functional implications, establishing genotype-phenotype correlations & evaluating treatment response ‼️
academic.oup.com/brain/advanc...
Reposted by Rikke S. Møller
📢 Paper out! Focal Cortical Dysplasia-linked epilepsy is more complex than expected - somatic mTOR-activating mutations affect multiple cell lineages, yet only a fraction become cytomegalic. Dysmorphic neurons show mitochondrial dysfunction. #Epilepsy #BrainMosaicism #Neurodevelopment
Single-cell genotyping and transcriptomic analysis reveals cell-type specific and non-autonomous effects of mTOR pathway mutations in mosaic focal cortical dysplasia type II (FCDII) 🧠🧪
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia - Nature Neuroscience
In this work, the authors performed a single-cell genotyping and transcriptomics analysis, revealing cell-type-specific and nonautonomous effects of mTOR pathway mutations in mosaic focal cortical dys...
www.nature.com
May 15, 2025 at 1:55 PM
📢 Paper out! Focal Cortical Dysplasia-linked epilepsy is more complex than expected - somatic mTOR-activating mutations affect multiple cell lineages, yet only a fraction become cytomegalic. Dysmorphic neurons show mitochondrial dysfunction. #Epilepsy #BrainMosaicism #Neurodevelopment
Dreaming of a career in neuroscience 🧠?
Neuroscience Academy Denmark @naddenmark.bsky.social offers 16 fully funded PhD fellowships to exceptional and highly motivated candidates‼️
📅 Application deadline: August 11, 2025
Learn more about NAD at 👉 neuroscienceacademydenmark.dk
Neuroscience Academy Denmark @naddenmark.bsky.social offers 16 fully funded PhD fellowships to exceptional and highly motivated candidates‼️
📅 Application deadline: August 11, 2025
Learn more about NAD at 👉 neuroscienceacademydenmark.dk
May 1, 2025 at 11:50 AM
Dreaming of a career in neuroscience 🧠?
Neuroscience Academy Denmark @naddenmark.bsky.social offers 16 fully funded PhD fellowships to exceptional and highly motivated candidates‼️
📅 Application deadline: August 11, 2025
Learn more about NAD at 👉 neuroscienceacademydenmark.dk
Neuroscience Academy Denmark @naddenmark.bsky.social offers 16 fully funded PhD fellowships to exceptional and highly motivated candidates‼️
📅 Application deadline: August 11, 2025
Learn more about NAD at 👉 neuroscienceacademydenmark.dk
Publication alert 📢 The severity of #SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction 🧬🧠
⭐️ 3 distinct molecular and clinical phenotypes were observed ‼️
Great multicenter collaborative effort led by scientists in 🇩🇰 & 🇩🇪
www.sciencedirect.com/science/arti...
⭐️ 3 distinct molecular and clinical phenotypes were observed ‼️
Great multicenter collaborative effort led by scientists in 🇩🇰 & 🇩🇪
www.sciencedirect.com/science/arti...
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction
Excitatory amino acid transporter 2 (EAAT2) is the predominant glutamate transporter and a key mediator of excitatory neurotransmission in the human b…
www.sciencedirect.com
April 5, 2025 at 2:23 PM
Publication alert 📢 The severity of #SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction 🧬🧠
⭐️ 3 distinct molecular and clinical phenotypes were observed ‼️
Great multicenter collaborative effort led by scientists in 🇩🇰 & 🇩🇪
www.sciencedirect.com/science/arti...
⭐️ 3 distinct molecular and clinical phenotypes were observed ‼️
Great multicenter collaborative effort led by scientists in 🇩🇰 & 🇩🇪
www.sciencedirect.com/science/arti...
Heading home after a fantastic Troina meeting on #genetics 🧬 of neurodevelopmental disorders 🇮🇹
Exciting and inspiring talks and discussions, & lovely to see old friends & colleagues from around the world 🤩
#Epilepsy
@hcmefford.bsky.social @bertdevries.bsky.social @naelnadifkasri-lab.bsky.social
Exciting and inspiring talks and discussions, & lovely to see old friends & colleagues from around the world 🤩
#Epilepsy
@hcmefford.bsky.social @bertdevries.bsky.social @naelnadifkasri-lab.bsky.social
April 5, 2025 at 12:34 PM
Heading home after a fantastic Troina meeting on #genetics 🧬 of neurodevelopmental disorders 🇮🇹
Exciting and inspiring talks and discussions, & lovely to see old friends & colleagues from around the world 🤩
#Epilepsy
@hcmefford.bsky.social @bertdevries.bsky.social @naelnadifkasri-lab.bsky.social
Exciting and inspiring talks and discussions, & lovely to see old friends & colleagues from around the world 🤩
#Epilepsy
@hcmefford.bsky.social @bertdevries.bsky.social @naelnadifkasri-lab.bsky.social
Reposted by Rikke S. Møller
Child neurologist Matthias De Wachter 🤩 and I are chatting on the podcast 🎙️ re the often-overlooked aspects of #epilepsy 😮!
We explore:
🔹 Symptoms beyond seizures
🔹 Lifestyle impacts
🔹 Paediatric to adult care
🔹 Drug repurposing
🔹 Research on rare epilepsies
Links in next post below 👇🏻!
We explore:
🔹 Symptoms beyond seizures
🔹 Lifestyle impacts
🔹 Paediatric to adult care
🔹 Drug repurposing
🔹 Research on rare epilepsies
Links in next post below 👇🏻!
March 27, 2025 at 2:08 PM
Child neurologist Matthias De Wachter 🤩 and I are chatting on the podcast 🎙️ re the often-overlooked aspects of #epilepsy 😮!
We explore:
🔹 Symptoms beyond seizures
🔹 Lifestyle impacts
🔹 Paediatric to adult care
🔹 Drug repurposing
🔹 Research on rare epilepsies
Links in next post below 👇🏻!
We explore:
🔹 Symptoms beyond seizures
🔹 Lifestyle impacts
🔹 Paediatric to adult care
🔹 Drug repurposing
🔹 Research on rare epilepsies
Links in next post below 👇🏻!
One of the missions of EpiCARE (the European Reference Network for rare and complex epilepsies) is to promote clinical research on genetic epilepsies 🧠
Check out the webpage for collaborative research calls incl. our recent call on #SCN2A-related episodic ataxia and alternating hemiplegia 👇
Check out the webpage for collaborative research calls incl. our recent call on #SCN2A-related episodic ataxia and alternating hemiplegia 👇
March 19, 2025 at 6:03 PM
One of the missions of EpiCARE (the European Reference Network for rare and complex epilepsies) is to promote clinical research on genetic epilepsies 🧠
Check out the webpage for collaborative research calls incl. our recent call on #SCN2A-related episodic ataxia and alternating hemiplegia 👇
Check out the webpage for collaborative research calls incl. our recent call on #SCN2A-related episodic ataxia and alternating hemiplegia 👇
Thrilled to share the program for the 3rd #SCN2A and #SCN8A scientific conference and family gathering 🤩
📅 May 16th-17th, 2025
📍 Bonn, Germany
⭐ Registration is free of charge 👉 lets-meet.org/reg/b7f4598e...
Join us in Bonn to learn more about SCN2A and SCN8A related disorders 💜
📅 May 16th-17th, 2025
📍 Bonn, Germany
⭐ Registration is free of charge 👉 lets-meet.org/reg/b7f4598e...
Join us in Bonn to learn more about SCN2A and SCN8A related disorders 💜
March 6, 2025 at 6:59 PM
Thrilled to share the program for the 3rd #SCN2A and #SCN8A scientific conference and family gathering 🤩
📅 May 16th-17th, 2025
📍 Bonn, Germany
⭐ Registration is free of charge 👉 lets-meet.org/reg/b7f4598e...
Join us in Bonn to learn more about SCN2A and SCN8A related disorders 💜
📅 May 16th-17th, 2025
📍 Bonn, Germany
⭐ Registration is free of charge 👉 lets-meet.org/reg/b7f4598e...
Join us in Bonn to learn more about SCN2A and SCN8A related disorders 💜
Today the amazing @agustinafernandez.bsky.social from Cure GABAA Variants and her lovely family visited the Danish Epilepsy Centre 😍
It was a great pleasure to showcase our beautiful center, to share progress & to discuss future collaborations 😊
Together, we can drive change ‼️
#StrongerTogether 💜
It was a great pleasure to showcase our beautiful center, to share progress & to discuss future collaborations 😊
Together, we can drive change ‼️
#StrongerTogether 💜
March 3, 2025 at 8:18 PM
Today the amazing @agustinafernandez.bsky.social from Cure GABAA Variants and her lovely family visited the Danish Epilepsy Centre 😍
It was a great pleasure to showcase our beautiful center, to share progress & to discuss future collaborations 😊
Together, we can drive change ‼️
#StrongerTogether 💜
It was a great pleasure to showcase our beautiful center, to share progress & to discuss future collaborations 😊
Together, we can drive change ‼️
#StrongerTogether 💜
Reposted by Rikke S. Møller
Calling any trainees and early career researchers interested in epilepsy and new drug development - places still remain on this summer's Advanced Epilepsy Course, held in San Servolo, Venice, Italy!
www.ilae.org/congresses/2...
www.ilae.org/congresses/2...
January 24, 2025 at 11:13 AM
Calling any trainees and early career researchers interested in epilepsy and new drug development - places still remain on this summer's Advanced Epilepsy Course, held in San Servolo, Venice, Italy!
www.ilae.org/congresses/2...
www.ilae.org/congresses/2...
Reposted by Rikke S. Møller
Key point: Cenobamate is a promising and safe treatment for SCN8A-related DEEs, even during early childhood.
doi.org/10.1111/epi....
#epilepsy #ILAE #drugresistantepilepsy #geneticepilepsy #sodiumchannelopathy #DEE
doi.org/10.1111/epi....
#epilepsy #ILAE #drugresistantepilepsy #geneticepilepsy #sodiumchannelopathy #DEE
January 24, 2025 at 5:54 PM
Key point: Cenobamate is a promising and safe treatment for SCN8A-related DEEs, even during early childhood.
doi.org/10.1111/epi....
#epilepsy #ILAE #drugresistantepilepsy #geneticepilepsy #sodiumchannelopathy #DEE
doi.org/10.1111/epi....
#epilepsy #ILAE #drugresistantepilepsy #geneticepilepsy #sodiumchannelopathy #DEE
Great pleasure to attend the Synapse Biology in Health and Disease Symposium at University of Copenhagen 🇩🇰
Lots of interesting talks incl. exciting presentations on SNAREopathies/#STXBP1-related disorders 🧠🧬
Grateful for the opportunity to share insights on #GABAA-receptor related disorders 🤩
Lots of interesting talks incl. exciting presentations on SNAREopathies/#STXBP1-related disorders 🧠🧬
Grateful for the opportunity to share insights on #GABAA-receptor related disorders 🤩
January 24, 2025 at 8:36 PM
Great pleasure to attend the Synapse Biology in Health and Disease Symposium at University of Copenhagen 🇩🇰
Lots of interesting talks incl. exciting presentations on SNAREopathies/#STXBP1-related disorders 🧠🧬
Grateful for the opportunity to share insights on #GABAA-receptor related disorders 🤩
Lots of interesting talks incl. exciting presentations on SNAREopathies/#STXBP1-related disorders 🧠🧬
Grateful for the opportunity to share insights on #GABAA-receptor related disorders 🤩
Reposted by Rikke S. Møller
Excited to see this paper out - Cenobamate has helped Margot so much and I hope this data will help expand access for pediatric patients.
Publication alert 📢 Cenobamate as add-on treatment SCN8A-DEE ‼️
⭐️ Our data suggest that cenobamate is a promising and safe treatment even during early childhood ‼️
Excellent work by Cathrine Gjerulfsen & Madeleine Oudin 💪👏
#Epilepsy 🧠 #Genetics 🧬
onlinelibrary.wiley.com/doi/abs/10.1...
⭐️ Our data suggest that cenobamate is a promising and safe treatment even during early childhood ‼️
Excellent work by Cathrine Gjerulfsen & Madeleine Oudin 💪👏
#Epilepsy 🧠 #Genetics 🧬
onlinelibrary.wiley.com/doi/abs/10.1...
Cenobamate as add‐on treatment for SCN8A developmental and epileptic encephalopathy
Cenobamate is a promising and safe treatment for SCN8A-DEE, even during early childhood. As a potential precision approach to treatment, cenobamate significantly reduced seizure burden and improved n...
onlinelibrary.wiley.com
January 20, 2025 at 4:13 PM
Excited to see this paper out - Cenobamate has helped Margot so much and I hope this data will help expand access for pediatric patients.
New preprint alert 📢 The natural history of #CDKL5 deficiency disorder into adulthood ❗
Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️
Angel Aledo-Serrano & David Lewis-Smith 💪👏
#Epilepsy 🧠 #Genetics 🧬
www.medrxiv.org/content/10.1...
Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️
Angel Aledo-Serrano & David Lewis-Smith 💪👏
#Epilepsy 🧠 #Genetics 🧬
www.medrxiv.org/content/10.1...
The natural history of CDKL5 deficiency disorder into adulthood
Knowledge of the natural history of CDKL5 deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical ...
www.medrxiv.org
January 15, 2025 at 6:31 PM
New preprint alert 📢 The natural history of #CDKL5 deficiency disorder into adulthood ❗
Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️
Angel Aledo-Serrano & David Lewis-Smith 💪👏
#Epilepsy 🧠 #Genetics 🧬
www.medrxiv.org/content/10.1...
Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️
Angel Aledo-Serrano & David Lewis-Smith 💪👏
#Epilepsy 🧠 #Genetics 🧬
www.medrxiv.org/content/10.1...
Publication alert 📢 Cenobamate as add-on treatment SCN8A-DEE ‼️
⭐️ Our data suggest that cenobamate is a promising and safe treatment even during early childhood ‼️
Excellent work by Cathrine Gjerulfsen & Madeleine Oudin 💪👏
#Epilepsy 🧠 #Genetics 🧬
onlinelibrary.wiley.com/doi/abs/10.1...
⭐️ Our data suggest that cenobamate is a promising and safe treatment even during early childhood ‼️
Excellent work by Cathrine Gjerulfsen & Madeleine Oudin 💪👏
#Epilepsy 🧠 #Genetics 🧬
onlinelibrary.wiley.com/doi/abs/10.1...
Cenobamate as add‐on treatment for SCN8A developmental and epileptic encephalopathy
Cenobamate is a promising and safe treatment for SCN8A-DEE, even during early childhood. As a potential precision approach to treatment, cenobamate significantly reduced seizure burden and improved n...
onlinelibrary.wiley.com
January 15, 2025 at 6:17 PM
Publication alert 📢 Cenobamate as add-on treatment SCN8A-DEE ‼️
⭐️ Our data suggest that cenobamate is a promising and safe treatment even during early childhood ‼️
Excellent work by Cathrine Gjerulfsen & Madeleine Oudin 💪👏
#Epilepsy 🧠 #Genetics 🧬
onlinelibrary.wiley.com/doi/abs/10.1...
⭐️ Our data suggest that cenobamate is a promising and safe treatment even during early childhood ‼️
Excellent work by Cathrine Gjerulfsen & Madeleine Oudin 💪👏
#Epilepsy 🧠 #Genetics 🧬
onlinelibrary.wiley.com/doi/abs/10.1...
What an incredible three days‼️ Huge congrats to Eduardo Pérez for organizing such a remarkable event & for the great hospitality 😍🤗
Here’s to future collaborations 🌟 🤩
¡Nos vemos en el próximo Congreso Latinoamericano de Epilepsias Genéticas (CLEG) ‼️
#Epilepsy 🧠 #Genetics🧬 #Collaboration
Here’s to future collaborations 🌟 🤩
¡Nos vemos en el próximo Congreso Latinoamericano de Epilepsias Genéticas (CLEG) ‼️
#Epilepsy 🧠 #Genetics🧬 #Collaboration
January 10, 2025 at 4:47 PM
What an incredible three days‼️ Huge congrats to Eduardo Pérez for organizing such a remarkable event & for the great hospitality 😍🤗
Here’s to future collaborations 🌟 🤩
¡Nos vemos en el próximo Congreso Latinoamericano de Epilepsias Genéticas (CLEG) ‼️
#Epilepsy 🧠 #Genetics🧬 #Collaboration
Here’s to future collaborations 🌟 🤩
¡Nos vemos en el próximo Congreso Latinoamericano de Epilepsias Genéticas (CLEG) ‼️
#Epilepsy 🧠 #Genetics🧬 #Collaboration
Attending the 1st Latin American Congress on #Epilepsy #Genetics in Chile 🇨🇱
Huge congrats to Carolina Alvarez and Eduardo Pérez for organizing this foundational and inspiring congress 🤩👏
#StrongerTogether #CollaborationIsKey #RareDisease #PrecisionMedicine
Huge congrats to Carolina Alvarez and Eduardo Pérez for organizing this foundational and inspiring congress 🤩👏
#StrongerTogether #CollaborationIsKey #RareDisease #PrecisionMedicine
January 8, 2025 at 7:51 PM
Attending the 1st Latin American Congress on #Epilepsy #Genetics in Chile 🇨🇱
Huge congrats to Carolina Alvarez and Eduardo Pérez for organizing this foundational and inspiring congress 🤩👏
#StrongerTogether #CollaborationIsKey #RareDisease #PrecisionMedicine
Huge congrats to Carolina Alvarez and Eduardo Pérez for organizing this foundational and inspiring congress 🤩👏
#StrongerTogether #CollaborationIsKey #RareDisease #PrecisionMedicine
Rima & Rimo in Roma 🤣, attending the "In Search of Lost Time 5" EpiCARE workshop 🧠
The workshop is focusing on the complex intersections of #FCDs and autoimmune diseases with #epilepsy 🧠
Excellent scientific talks, extremely inspiring discussions & always a pleasure seeing friends and colleagues 🤩
The workshop is focusing on the complex intersections of #FCDs and autoimmune diseases with #epilepsy 🧠
Excellent scientific talks, extremely inspiring discussions & always a pleasure seeing friends and colleagues 🤩
December 18, 2024 at 12:44 PM
A great day for Elena Gardella and the #epilepsy community in Denmark 🇩🇰 and beyond 🌍
Elena gave her inaugural lecture "A deep dive into monogenic 🧬 epilepsies 🧠: from precision diagnosis to personalized treatment 💊" as new #Professor of Translational Epileptology at @sdu.dk and Filadelfia 👏👏
Elena gave her inaugural lecture "A deep dive into monogenic 🧬 epilepsies 🧠: from precision diagnosis to personalized treatment 💊" as new #Professor of Translational Epileptology at @sdu.dk and Filadelfia 👏👏
December 13, 2024 at 5:28 PM
A great day for Elena Gardella and the #epilepsy community in Denmark 🇩🇰 and beyond 🌍
Elena gave her inaugural lecture "A deep dive into monogenic 🧬 epilepsies 🧠: from precision diagnosis to personalized treatment 💊" as new #Professor of Translational Epileptology at @sdu.dk and Filadelfia 👏👏
Elena gave her inaugural lecture "A deep dive into monogenic 🧬 epilepsies 🧠: from precision diagnosis to personalized treatment 💊" as new #Professor of Translational Epileptology at @sdu.dk and Filadelfia 👏👏
Back in Denmark 🇩🇰 after a fantastic week in US 🇺🇲
Loved spending time with the amazing ePAGs, catching up with old friends, making new, listening to exciting talks & discussing new and ongoing research projects w/ colleagues from around the world 🌍
Thanks to all who made this trip unforgettable 😍
Loved spending time with the amazing ePAGs, catching up with old friends, making new, listening to exciting talks & discussing new and ongoing research projects w/ colleagues from around the world 🌍
Thanks to all who made this trip unforgettable 😍
December 10, 2024 at 3:28 PM
Back in Denmark 🇩🇰 after a fantastic week in US 🇺🇲
Loved spending time with the amazing ePAGs, catching up with old friends, making new, listening to exciting talks & discussing new and ongoing research projects w/ colleagues from around the world 🌍
Thanks to all who made this trip unforgettable 😍
Loved spending time with the amazing ePAGs, catching up with old friends, making new, listening to exciting talks & discussing new and ongoing research projects w/ colleagues from around the world 🌍
Thanks to all who made this trip unforgettable 😍
I am incredibly grateful, humbled & honored to have recieved this CureGABAA award 💜
It is truly a privilege to be part of this amazing community that is working SO hard to improving the lives of people with GABAA- receptor related disorders 🤩
#StrongerTogether 💜#Epilepsy 🧠 #Genetics 🧬
It is truly a privilege to be part of this amazing community that is working SO hard to improving the lives of people with GABAA- receptor related disorders 🤩
#StrongerTogether 💜#Epilepsy 🧠 #Genetics 🧬
December 7, 2024 at 6:01 AM
I am incredibly grateful, humbled & honored to have recieved this CureGABAA award 💜
It is truly a privilege to be part of this amazing community that is working SO hard to improving the lives of people with GABAA- receptor related disorders 🤩
#StrongerTogether 💜#Epilepsy 🧠 #Genetics 🧬
It is truly a privilege to be part of this amazing community that is working SO hard to improving the lives of people with GABAA- receptor related disorders 🤩
#StrongerTogether 💜#Epilepsy 🧠 #Genetics 🧬
Publication alert 📢 Understanding paralogous epilepsy–associated GABAA receptor variants 🤩
Our findings illustrate how gene family information may facilitate variant interpretation👍
Excellent work by Anthony, Ali & Nazanin 👏
#Epilepsy 🧠 #Genetics 🧬
www.pnas.org/doi/10.1073/...
Our findings illustrate how gene family information may facilitate variant interpretation👍
Excellent work by Anthony, Ali & Nazanin 👏
#Epilepsy 🧠 #Genetics 🧬
www.pnas.org/doi/10.1073/...
PNAS
Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...
www.pnas.org
December 6, 2024 at 10:34 PM
Publication alert 📢 Understanding paralogous epilepsy–associated GABAA receptor variants 🤩
Our findings illustrate how gene family information may facilitate variant interpretation👍
Excellent work by Anthony, Ali & Nazanin 👏
#Epilepsy 🧠 #Genetics 🧬
www.pnas.org/doi/10.1073/...
Our findings illustrate how gene family information may facilitate variant interpretation👍
Excellent work by Anthony, Ali & Nazanin 👏
#Epilepsy 🧠 #Genetics 🧬
www.pnas.org/doi/10.1073/...
Wonderful visit at Stanford University 🤩
Thanks to Cordelia Smidth and Juliet Knowles for showing us the impressive Knowles Lab, and the beautiful campus 🤩
#GABRB3 #Epilepsy 🧠 #Genetics 🧬 #PreclinicalModels 🐭
Thanks to Cordelia Smidth and Juliet Knowles for showing us the impressive Knowles Lab, and the beautiful campus 🤩
#GABRB3 #Epilepsy 🧠 #Genetics 🧬 #PreclinicalModels 🐭
December 4, 2024 at 11:29 PM
Wonderful visit at Stanford University 🤩
Thanks to Cordelia Smidth and Juliet Knowles for showing us the impressive Knowles Lab, and the beautiful campus 🤩
#GABRB3 #Epilepsy 🧠 #Genetics 🧬 #PreclinicalModels 🐭
Thanks to Cordelia Smidth and Juliet Knowles for showing us the impressive Knowles Lab, and the beautiful campus 🤩
#GABRB3 #Epilepsy 🧠 #Genetics 🧬 #PreclinicalModels 🐭
Reposted by Rikke S. Møller
I've updated the starter pack for rare genetic epilepsies 🧠🧬
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
November 21, 2024 at 9:10 PM
I've updated the starter pack for rare genetic epilepsies 🧠🧬
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C