#Channelopathies
📰Latest from our lab (Open Access)!

Brain Capillary Ion Channels: Physiology and Channelopathies

This review attempts to concisely cover a fast-evolving research field on channels in🧠capillaries
@apspublications.bsky.social

journals.physiology.org/doi/abs/10.1...
August 6, 2025 at 5:02 PM
Excited to share the latest from our lab (final version, open access):

Brain Capillary Ion Channels: Physiology and Channelopathies

Physiology | @apspublications.bsky.social

journals.physiology.org/doi/full/10....

@uvmlarnermed.bsky.social
November 19, 2025 at 1:38 PM
Don't miss this great coming meeting on channelopathies. Early bird registration until Dec 15th. #channelopathies #channelopathy #ionchannel #neuroscience #disease #physiology #pharmacology #electrophysiology #patchclamp
December 10, 2025 at 8:04 AM
📢 #PaperAlert

Review article in @WIREs_Reviews on #AlternativeSplicing, voltage-gated #calcium #channels, and #channelopathies. #IonChannels

Alternative Splicing and CaV‐Associated Channelopathies - Munyao - 2025 - WIREs RNA - Wiley Online Library wires.onlinelibrary.wiley.com/doi/10.1002/...
Alternative Splicing and CaV‐Associated Channelopathies
Voltage-gated calcium channels control vital cellular processes through complex alternative splicing mechanisms, and their dysfunction contributes to neurological, cardiac, endocrine, oncogenic, and ...
wires.onlinelibrary.wiley.com
June 11, 2025 at 8:16 PM
Eslam Elhanafy, Jing Li et al. @olemiss.bsky.social show that identical mutations at equivalent positions in VSDs of cardiac sodium channels can lead to diverse functional effects. https://buff.ly/4haX9PQ
#IonChannels #Channelopathies
January 17, 2025 at 5:39 PM
Last week, at K-Channelopathies 2026 Symposium, to discuss the latest advances in #RareEpilepsies and K-channelopathies.

🗣️Ralf-Dieter Hilgers: “The meeting was a stimulation with regards to new developments”

🔗Learn about the link between #RealiseD and #RareEpilepsies: https://loom.ly/8uvU3Ms
October 1, 2026 at 7:01 AM
European Calcium Channel Conference 2025

Early registration and abstract submission are still open until March 10, 2025!

For additional information, please visit the meeting website: calciumchannel.eu and for registration: calciumchannel.eu/registration...

#calcium #channelopathies #ionchannels
March 6, 2025 at 3:11 PM
🧠🆕Review article: "Brain Capillary Ion Channels: Physiology and Channelopathies."

Osama F. Harraz and Ahmed M. Hashad
https://ow.ly/MUCH50YbM0p.
#BrainCapillaries #CerebralBloodFlow
February 9, 2026 at 5:01 PM
Our work uncovering CACNA1G channelopathies in thalamocortical assembloids was featured on the cover of the final 2024 issue of Neuron! A great way to kick off 2025!

Full article here: www.cell.com/neuron/fullt...
January 12, 2025 at 6:52 PM
It's been a long-held theory of mine that many of us have a predisposition to ME because of inborn errors of metabolism and/or channelopathies. I have a book on IEMs and many recommendations are ME-appropriate, and many recs are the same across genetic variants.
July 29, 2024 at 3:11 PM
Thrilled to share our collaborative review exploring the resemblance of pulmonary arterial hypertension and cancers as channelopathies @cellpress.bsky.social Trends in Molecular Medicine
@inserm.fr Inserm UMR 999
@univparissaclay.bsky.social Université de Tours
www.sciencedirect.com/science/arti...
Pulmonary arterial hypertension and cancer: exploring their resemblance as channelopathies
Pulmonary arterial hypertension (PAH) and cancer may appear to be unrelated at first, but there is increasing evidence that they share many characteri…
www.sciencedirect.com
April 9, 2025 at 12:52 PM
The Pain Beat- New Episode---- Channelopathies -a critical contributor to our understanding of pain. Angelika Lampert, PhD, Candice Paulsen, Ph.D, See Wan Tham, MD, John Del Rosario, PhD bit.ly/48eaaWG
@usasp.bsky.social @iasp.bsky.social
#pain
#painresearch
#channelopathies
#paintreatment
August 6, 2026 at 12:52 AM
One way to see who has voltage gated ion channelopathies of the hypothalamus. 😭
May 24, 2026 at 4:06 AM
Spreading the word to cardiologists at CSANZ meeting on how functional data can help with variant reclassification in cardiac channelopathies and sometimes in risk prediction as well. Hopefully more of them are aware of our research.
August 16, 2025 at 9:24 PM
Patients often don't know how to describe/clinicians don't know how to ask. "Weighted down, it's hard to move, it's worse if I've been lying still awhile" and the clinician writes "fatigue" on their chart.

We see this in Parkinson's and some IEMs and some channelopathies.
November 15, 2024 at 11:38 PM
In the beginning, the only cause of sensory overload that I knew about was ion channel diseases (channelopathies).
July 25, 2023 at 9:53 PM
I have always wanted to work with testing laboratories to integrate #ionchannel functional data into their variant classification workflow to reclassify harmful variants as likely pathogenic and improve genetic diagnosis for patients with channelopathies. Under review, but preprint is available.
Calibrated Functional Data Decreases Clinical Uncertainty for Tier 1 Monogenic Disease: Application to Long QT Syndrome https://www.medrxiv.org/content/10.1101/2025.02.05.25321617v1
February 9, 2025 at 3:36 AM
Check out this great review by Osama Harraz et al., Brain Capillary Ion Channels: Physiology and Channelopathies
➡️ https://ow.ly/Jenc50YCOSA
#BrainCapillaries #IonChannels
April 7, 2026 at 3:01 PM
Gene Therapy with the N-terminal Fragment of Nav1.5 for Cardiac Channelopathies: A Novel Transcomplementation Mechanism Potentiating the Cardiac Sodium Current https://www.biorxiv.org/content/10.1101/2024.10.30.621028v1
Gene Therapy with the N-terminal Fragment of Nav1.5 for Cardiac Channelopathies: A Novel Transcomplementation Mechanism Potentiating the Cardiac Sodium Current https://www.biorxiv.org/content/10.1101/2024.10.30.621028v1
BACKGROUND: Cardiac channelopathies, caused by mutations in ion-channel genes, can lead to sudden ca
www.biorxiv.org
November 4, 2024 at 5:06 AM
Very cool. Congrats. Wild that you even rescue AMPA-NMDA ratio. That is deep.

It goes straight into my lectures on channelopathies.
September 17, 2025 at 9:42 PM
Another #labfirsts : First publication from Neurodevelopment Lab @jncasr, with @VishalLolam in Frontiers-Neurology.
Our review on #pediatric #epilepsy highlights mechanistic aspects of the disorder beyond channelopathies, emphasizing the importance of #PI3K_AKT_MTOR pathway.
x.com/roy_achira/s...
x.com
June 3, 2025 at 4:20 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
January 17, 2025 at 4:27 PM
Also consider channelopathies.
February 18, 2024 at 10:03 PM
Superb stuff. Thanks for codifying this idea in the literature.

It's an instant addition to my channelopathies lecture, where I already discussed this point, in a much less rigorous way.
June 5, 2026 at 7:31 AM
📢 Make sure to join us next week for a talk by Janneke Hoeijmakers, who will present her recent work in the field of #pain research, titled:

"Sodium channelopathies in small fiber neuropathy: from genotype to phenotype".

the link will be available here: sodiumchannelseminars.org/Program-2024...
June 18, 2025 at 3:23 PM