Important to note that Donald Trump’s opinion of his grand nephew with KCNQ2 developmental and epileptic encephalopathy is that he should just die
Imagine these being your values: I think disabled children have it too easy, they should have less stuff. That's the global right atm, those are the people we're dealing with.
There are reports that the *entire* office of special education at the US Dept of Education has been cut. These hardworking folks ensure kids with disabilities get equal access to a quality education.
America’s children deserve better than this.
America’s children deserve better than this.
October 11, 2025 at 6:10 PM
Important to note that Donald Trump’s opinion of his grand nephew with KCNQ2 developmental and epileptic encephalopathy is that he should just die
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD
www.nature.com/articles/s41...
www.nature.com/articles/s41...
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD - Nature Neuroscience
TDP-43 dysfunction in ALS/FTD causes faulty splicing of the KCNQ2 ion channel, leading to toxic protein buildup, neuron hyperactivity and a potential new biomarker and treatment target using RNA-based...
www.nature.com
November 14, 2025 at 2:48 PM
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Od prvního do sedmého března probíhá Týden povědomí o KCNQ2.
Taky nevím hele.
Taky nevím hele.
March 6, 2025 at 7:58 AM
Od prvního do sedmého března probíhá Týden povědomí o KCNQ2.
Taky nevím hele.
Taky nevím hele.
Sharing our latest work, an ALS-related KCNQ2 splice variant that yields a dead channel (no K+ permeability), aggregates in neurons and causes intrinsic hyperexcitability.
Thanks to co-firsts Kelly and Peter, Kiskinis, Eggan and Fratta groups and others.
www.nature.com/articles/s41...
Thanks to co-firsts Kelly and Peter, Kiskinis, Eggan and Fratta groups and others.
www.nature.com/articles/s41...
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD - Nature Neuroscience
TDP-43 dysfunction in ALS/FTD causes faulty splicing of the KCNQ2 ion channel, leading to toxic protein buildup, neuron hyperactivity and a potential new biomarker and treatment target using RNA-based...
www.nature.com
November 4, 2025 at 3:09 AM
Sharing our latest work, an ALS-related KCNQ2 splice variant that yields a dead channel (no K+ permeability), aggregates in neurons and causes intrinsic hyperexcitability.
Thanks to co-firsts Kelly and Peter, Kiskinis, Eggan and Fratta groups and others.
www.nature.com/articles/s41...
Thanks to co-firsts Kelly and Peter, Kiskinis, Eggan and Fratta groups and others.
www.nature.com/articles/s41...
Hot off the press from the RTI: TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD
buff.ly/X23QYQI #RNA #RNATherapeutics
buff.ly/X23QYQI #RNA #RNATherapeutics
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD - PubMed
Motor neuron hyperexcitability is a broadly observed yet poorly understood feature of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Nuclear depletion and cytoplasmic aggregation...
buff.ly
November 2, 2025 at 6:02 PM
Hot off the press from the RTI: TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD
buff.ly/X23QYQI #RNA #RNATherapeutics
buff.ly/X23QYQI #RNA #RNATherapeutics
KCNQ2 disorders are due to mutations on that gene, often de novo (not from parents). If a newborn is having seizures in the first days of life, once infectious causes are ruled out, it’s worth running a genetic panel, because diagnosis of KCNQ2 allows for early intervention and targeted medication.
This year, I am acknowledging the awareness week of a rare disease that I learned of only recently when it took on swift significance to my family. KCNQ2 disorders are among the most common cause of neonatal seizures. Variants can cause epilepsy and developmental delays ranging from mild to severe.
March 1, 2026 at 9:36 PM
KCNQ2 disorders are due to mutations on that gene, often de novo (not from parents). If a newborn is having seizures in the first days of life, once infectious causes are ruled out, it’s worth running a genetic panel, because diagnosis of KCNQ2 allows for early intervention and targeted medication.
Principal Investigator Zhao Wang and researchers at @bcmhouston.bsky.social investigate a potential cause of a type of severe epilepsy that develops in early life because of a defect in a gene called KCNQ2. buff.ly/4geoFeo
Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy
A single amino acid change in a neuronal ion channel called KCNQ2 blocks ion flow, prevents protein localization on axons, and results in severe epilepsy and slowed neurological development.
buff.ly
February 14, 2025 at 4:15 PM
Principal Investigator Zhao Wang and researchers at @bcmhouston.bsky.social investigate a potential cause of a type of severe epilepsy that develops in early life because of a defect in a gene called KCNQ2. buff.ly/4geoFeo
Right now, every single dollar you donate to KCNQ2 research counts twice. We’ve raised $20K, but we need your help to reach $100K.
🧬 Your gift fuels vital breakthroughs for those impacted by KCNQ2.
💜 Join the mission today and spark a brighter future:
Donate Now → givebutter.com/2024KCNQ2
🧬 Your gift fuels vital breakthroughs for those impacted by KCNQ2.
💜 Join the mission today and spark a brighter future:
Donate Now → givebutter.com/2024KCNQ2
KCNQ2 Giving Season: Double the Hope
The 2024 end-of-year giving campaign for KCNQ2 Cure Alliance, matching up to $50K
givebutter.com
December 17, 2024 at 6:22 PM
Right now, every single dollar you donate to KCNQ2 research counts twice. We’ve raised $20K, but we need your help to reach $100K.
🧬 Your gift fuels vital breakthroughs for those impacted by KCNQ2.
💜 Join the mission today and spark a brighter future:
Donate Now → givebutter.com/2024KCNQ2
🧬 Your gift fuels vital breakthroughs for those impacted by KCNQ2.
💜 Join the mission today and spark a brighter future:
Donate Now → givebutter.com/2024KCNQ2
Understanding Lived experience of KCNQ2 is coming up in Epilepsy and Behavior as well ❤️🩹. With a good writing team - everyone can become an academic. 💪
August 20, 2025 at 3:29 PM
Understanding Lived experience of KCNQ2 is coming up in Epilepsy and Behavior as well ❤️🩹. With a good writing team - everyone can become an academic. 💪
New research sheds light on KCNQ2 disorders, showing how genetic factors can affect cognitive abilities and epilepsy. This study involved 90 patients from China, providing valuable insights into these conditions. #epilepsyexplained #epilepsy 💜.
New Insights on KCNQ2 Disorders and Cognitive Impairment - Epilepsy Explained 💜
Discover KCNQ2 Disorders and Epilepsy Insights, exploring genetic impacts on cognitive abilities and epilepsy in a study of 90 patients from China.
epilepsyexplained.com
January 25, 2026 at 3:10 PM
New research sheds light on KCNQ2 disorders, showing how genetic factors can affect cognitive abilities and epilepsy. This study involved 90 patients from China, providing valuable insights into these conditions. #epilepsyexplained #epilepsy 💜.
Structure basis for the activation of KCNQ2 by endogenous and exogenous ligands pubmed.ncbi.nlm.nih.gov/41442279/ #cryoem
December 25, 2025 at 2:18 PM
Structure basis for the activation of KCNQ2 by endogenous and exogenous ligands pubmed.ncbi.nlm.nih.gov/41442279/ #cryoem
Structure basis for the activation of KCNQ2 by endogenous and exogenous ligands
Structure basis for the activation of KCNQ2 by endogenous and exogenous ligands
Zhao et al. report cryo-EM structures of human KCNQ2 in complex with QO-58 and QO-83 in multiple conformations, with or without PIP2. Together with electrophysiological and computational analyses, these structures provide insight into the channel’s activation mechanism and support the rational design of targeted anti-epileptic therapies.
dlvr.it
January 11, 2026 at 3:39 PM
Structure basis for the activation of KCNQ2 by endogenous and exogenous ligands
3/4 Grad student Amatun Noor Prapty presented a poster on RNA splicing of the voltage-gated potassium channel Kv7.2 #KCNQ2.
#RNAsplicing
#potassium
#ionchannel
#RNAsplicing
#potassium
#ionchannel
April 14, 2026 at 7:25 PM
3/4 Grad student Amatun Noor Prapty presented a poster on RNA splicing of the voltage-gated potassium channel Kv7.2 #KCNQ2.
#RNAsplicing
#potassium
#ionchannel
#RNAsplicing
#potassium
#ionchannel
"Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy"
www.jneurosci.org/content/46/3...
www.jneurosci.org/content/46/3...
Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy
KCNQ2 potassium channel variants are linked to developmental and epileptic encephalopathy (DEE). However, the mechanisms by which pathogenic variants, especially those outside known hotspots, such as ...
www.jneurosci.org
February 14, 2026 at 6:55 PM
"Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy"
www.jneurosci.org/content/46/3...
www.jneurosci.org/content/46/3...
Early treatment can make a big difference in managing seizures for those with a rare KCNQ2 deletion. Discover how timely intervention helped one patient find relief. #epilepsyexplained #epilepsy 💜.
KCNQ2 Seizure Treatment: Early Help Matters
Learn how early KCNQ2 Seizure Treatment helped control seizures in a rare KCNQ2 deletion case report for patients and caregivers.
epilepsyexplained.com
June 1, 2026 at 8:17 PM
Early treatment can make a big difference in managing seizures for those with a rare KCNQ2 deletion. Discover how timely intervention helped one patient find relief. #epilepsyexplained #epilepsy 💜.
On Friday, 9/18/26, Audrey Weber Baker will be presenting her RIP talk titled, "Mechanisms underlying KCNQ2 Developmental and Epileptic Encephalopathy: Unraveling the paradox." This event will be from 12:20-1:10pm in TLS 111!
September 16, 2026 at 7:24 PM
On Friday, 9/18/26, Audrey Weber Baker will be presenting her RIP talk titled, "Mechanisms underlying KCNQ2 Developmental and Epileptic Encephalopathy: Unraveling the paradox." This event will be from 12:20-1:10pm in TLS 111!
Recent findings reveal a previously unrecognized structural role of the #KCNQ2 pore turret and its involvement in neurodevelopment and epileptogenesis.
Read more here: www.nanion.de/news/diverse...
#ionchannels #channelopathies
January 17, 2025 at 4:27 PM
Recent findings reveal a previously unrecognized structural role of the #KCNQ2 pore turret and its involvement in neurodevelopment and epileptogenesis.
Read more here: www.nanion.de/news/diverse...
#ionchannels #channelopathies
Understanding lived experiences with KCNQ2 got accepted by epilepsy and behavior
August 20, 2025 at 3:14 PM
Understanding lived experiences with KCNQ2 got accepted by epilepsy and behavior
RRIDs were included in this paper. Thanks for making your methods matter! #OpenScience #OpenScience #RRID
Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy
doi.org
January 11, 2026 at 8:00 AM
RRIDs were included in this paper. Thanks for making your methods matter! #OpenScience #OpenScience #RRID
New treatment perspective for KCNQ2-related epilepsy: An antipsychotic drug shows the ability to activate KCNQ2 potassium channels and reduce seizure-like activity in preclinical models. www.itmp.fraunhofer.de/en/press/Epi... #DrugRepurposing #Neuroscience
September 3, 2025 at 12:15 PM
New treatment perspective for KCNQ2-related epilepsy: An antipsychotic drug shows the ability to activate KCNQ2 potassium channels and reduce seizure-like activity in preclinical models. www.itmp.fraunhofer.de/en/press/Epi... #DrugRepurposing #Neuroscience
November 2025 WikiPathways update: 686 edits by 6 contributors and 10 new pathways in the last month. Accessible via #webservices, #rstats, #PathVisio and #Cytoscape.
Supported by #AWSOpen. https://www.wikipathways.org/index.php/Download_Pathways
#bioinformatics #openscience #opensource
Supported by #AWSOpen. https://www.wikipathways.org/index.php/Download_Pathways
#bioinformatics #openscience #opensource
November 12, 2025 at 6:21 AM
November 2025 WikiPathways update: 686 edits by 6 contributors and 10 new pathways in the last month. Accessible via #webservices, #rstats, #PathVisio and #Cytoscape.
Supported by #AWSOpen. https://www.wikipathways.org/index.php/Download_Pathways
#bioinformatics #openscience #opensource
Supported by #AWSOpen. https://www.wikipathways.org/index.php/Download_Pathways
#bioinformatics #openscience #opensource
Early sodium channel blocker use improves seizures and neurodevelopment in KCNQ2-related disorders https://www.medrxiv.org/content/10.64898/2026.02.10.26345394v1
February 14, 2026 at 3:26 PM
Early sodium channel blocker use improves seizures and neurodevelopment in KCNQ2-related disorders https://www.medrxiv.org/content/10.64898/2026.02.10.26345394v1
A compound binding to a site peripheral to the KCNQ2 pore acts as either a channel activator (Ebio2) or inhibitor (Ebio3) by a change of a functional group, with the inhibitor having a unique mechanism causing the channel gates to close #ionchannel #ChemBio #chemsky
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Small molecule inhibits KCNQ channels with a non-blocking mechanism - Nature Chemical Biology
Two small-molecule modulators (Ebio2 and Ebio3) of the potassium channel KCNQ2 were developed using the same chemical scaffold. The modulators show opposite effects: Ebio2 acts as an activator, wherea...
www.nature.com
January 17, 2025 at 3:41 PM
A compound binding to a site peripheral to the KCNQ2 pore acts as either a channel activator (Ebio2) or inhibitor (Ebio3) by a change of a functional group, with the inhibitor having a unique mechanism causing the channel gates to close #ionchannel #ChemBio #chemsky
www.nature.com/articles/s41...
www.nature.com/articles/s41...
A narrative review highlights the motor, cognitive, communication, and behavioural features of KCNQ2 developmental and epileptic encephalopathy
#Epilepsy #RareDisease
onlinelibrary.wiley.com/doi/10.1111/...
#Epilepsy #RareDisease
onlinelibrary.wiley.com/doi/10.1111/...
July 16, 2026 at 2:02 PM
A narrative review highlights the motor, cognitive, communication, and behavioural features of KCNQ2 developmental and epileptic encephalopathy
#Epilepsy #RareDisease
onlinelibrary.wiley.com/doi/10.1111/...
#Epilepsy #RareDisease
onlinelibrary.wiley.com/doi/10.1111/...
Molecular dynamics of the pathogenic KCNQ2 variant G256W reveal mechanisms of channel dysfunction in epileptic encephalopathy https://www.biorxiv.org/content/10.64898/2025.12.01.691689v1
December 3, 2025 at 10:15 PM
Molecular dynamics of the pathogenic KCNQ2 variant G256W reveal mechanisms of channel dysfunction in epileptic encephalopathy https://www.biorxiv.org/content/10.64898/2025.12.01.691689v1