🔬 Call for Papers: Channelopathies in Focus
Focusing on #ionchannel–related diseases, from classical plasma‑membrane #channelopathies to emerging roles of organellar channels, non‑excitable cell physiology, and channel‑dependent #signalling.
📍 🔗 physoc.onlinelibrary.wiley.com/hub/journal/...
Promotional graphic for the “Connect CACNA1C Global Network Conference.” Navy and orange design with the headline “Bringing together the global CACNA1C community.” Text explains the conference unites researchers and families to share discoveries, insights and hope in CACNA1C research. Calls to action read “Register your interest in attending” and “Abstract submissions open now,” with the abstract deadline of 16 February 2026 and a website link to timothysyndrome.org/conference. Event details show 22–23 July 2026, Cardiff, UK, as an in-person event with online attendance available. A message invites people living with a CACNA1C variant, parents or carers, researchers, clinicians and advocates to attend. Includes network and DNA icons and the Timothy Syndrome Alliance (TSA) CACNA1C logo.
ABSTRACT SUBMISSION OPEN! #CACNA1C
Join us at the Connect CACNA1C Global Network Conference! 🧬22nd-23rd July 2026 in Cardiff, UK
Click here for registration/abstract submission:
🔗 timothysyndrome.org/conference/
#TimothySyndrome #channelopathies #genomics
Don't miss this great coming meeting on channelopathies. Early bird registration until Dec 15th. #channelopathies #channelopathy #ionchannel #neuroscience #disease #physiology #pharmacology #electrophysiology #patchclamp
In this #Editorial, Koichi Nakajo of Jichi Medical University argues that the future of #precisionmedicine in #channelopathies hinges on our ability to bridge the gap between molecular detail and clinical application 🔎🥼
📜 🔗 Read the full article here:
www.jprecisionmedicine.org/article/S305...
Nice start to the 3. #Channelopathies meeting in #Tübingen yesterday. #epilepsy #DEE #autism Join online at ec.europa.eu/eusurvey/run...
What are voltage-gated calcium channels?
Our VGCCC 101 slides walk you through the basics of voltage-gated calcium channels - what they are, how they help our cells communicate, and why they’re so important for health.
#calcium #channelopathies #raredisease
📢 #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/...
How do CaV1.2 mutations drive both arrhythmias and neuro symptoms in Timothy syndrome?
Join Ivy Dick on June 12 to learn how high-throughput patch clamp reveals mutation-specific gating changes tied to clinical outcomes.
📍https://ow.ly/PxZY50W72H7
#PatchClamp #Channelopathies #IonChannels
Purple graphic featuring a unicorn with pink mane and green stars. White text reads: “LOOKING FOR THE ONE IN A MILLION CACNA1F is a gene that is important for retinal neurotransmission, or how neurons between the eyes and the brain communicate. Changes in CACNA1F are linked to disorders such as congenital stationary night blindness (CSNB), Aland Island Eye Disease, nystagmus, strabismus, and other visual impairments. We are looking for more families and individuals with confirmed CACNA1F gene changes to join the CACNA1F community. Please contact us if this is you.” Website: thevgccc.org
#CACNA1F
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
Purple background graphic with the heading “LOOKING FOR THE ONE IN A MILLION” in bold white text. The text explains that CACNA1H is a gene that is important for neurotransmission, or how neurons communicate with each other. Changes in CACNA1H are linked to disorders such as epilepsy, especially absence epilepsy, autism spectrum disorder, behavioural illnesses, primary aldosteronism, and congenital amyotrophy. The graphic encourages individuals or families with confirmed CACNA1H diagnoses to contact the organisation to join the CACNA1H community. On the right side is a whimsical illustration of a sparkly unicorn with a purple mane and green stars around it. Website at the bottom: thevgccc.org.
#CACNA1H
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
Purple background graphic with the heading “LOOKING FOR THE ONE IN A MILLION” in bold white text. The text explains that CACNA1G is a gene essential for communication between the brain and the rest of the body. Changes in this gene may cause intellectual disability, developmental delays, ataxia (uncoordinated movements), epilepsy, and eye conditions. The graphic encourages individuals or families with confirmed CACNA1G-related diagnoses to contact the organisation to join the CACNA1G community. On the right side is a whimsical illustration of a sparkly unicorn with a purple mane and green stars around it. Website at the bottom: thevgccc.org.
#CACNA1G
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
A purple graphic with white text and a hand-drawn unicorn with a pink mane, golden horn, and green stars around it. The heading reads "LOOKING FOR THE ONE IN A MILLION." The text explains that the CACNA1S gene is essential for skeletal muscle contraction and vital for functions like respiration, posture, communication, locomotion, and heat production. It states that mutations in CACNA1S are linked to symptoms such as muscle weakness, delayed motor development, scoliosis, dysmorphic facial features, periodic paralysis, and susceptibility to malignant hyperthermia. It invites families and individuals with confirmed CACNA1S gene changes to join the community, ending with a call to contact and the website: thevgccc.org.
#CACNA1S
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
A purple digital graphic features a unicorn with a pink mane, gold horn, and a happy expression, surrounded by green stars. The text at the top says, "LOOKING FOR THE ONE IN A MILLION." Below, it explains that the CACNA1C gene helps control calcium flow in the heart and brain. Changes in this gene are linked to conditions like autism, ADHD, seizures, low muscle tone, immune problems, and heart issues, including sudden arrhythmia. The message invites families and individuals with confirmed CACNA1C gene changes to join the CACNA1C community and provides a website for contact: thevgccc.org.
#CACNA1C
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
A digital graphic with a purple background features white text and an illustrated unicorn with a pink mane and a glittery texture. Green stars are scattered around the unicorn. The bold heading reads, 'LOOKING FOR THE ONE IN A MILLION.' The text explains that the CACNA1B gene is important for brain communication and that changes in this gene are linked to neurological disorders such as seizures, epileptic encephalopathy, dystonia, autism spectrum disorder, and neuropathic pain. It invites families and individuals with confirmed CACNA1B gene changes to join the CACNA1B community and provides the website address 'thevgccc.org' for contact.
#CACNA1B
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
A digital graphic with a deep purple background features a textured, pastel-coloured unicorn with a golden horn and small green stars around it. White uppercase text at the top reads, "LOOKING FOR THE ONE IN A MILLION." Below, smaller white text explains that CACNA1A is a gene important for neuron communication and that changes in this gene are linked to disorders like epilepsy, hemiplegic migraine, and episodic ataxia type 2, along with other neurological symptoms. The text invites individuals with confirmed CACNA1A variants to join the CACNA1A community and provides a website, thevgccc.org, for more information.
#CACNA1A
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
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
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
A celebratory announcement graphic with a deep purple background. The text 'We are live now' is written in white cursive with two firework-like spark designs on either side. Below, in smaller white text, it says 'Check out our new website.' The image features a stylized browser window displaying the URL 'https://thevgccc.org.' Inside the browser window is the VGCCC logo, which includes a purple DNA helix between two black vertical bars, with the text 'VGCCC - Voltage-Gated Calcium Channel Collective' beneath it. The browser window has a green frame.
Website launch
Global network, amplifying the patient voice, driving research and treatment.
This is a collaboration powered by passion, determination, and the pursuit of answers.
#calcium #channelopathies #research #community #ionchannels #RareDiseaseDay #equity #raredisease
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
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
A recent study has uncovered a significant association between rare SCN2A variants and malformation of cortical development in patients with developmental and epileptic encephalopathy.
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Find the full article here: onlinelibrary.wiley.com/doi/full/10....
#ionchannels #channelopathies
Have you come across myotonia? Difficulty initiating movement can be part of that.
I get the overheated back of neck too - I've been reading up on 'silent migraine' (without headache). Some forms of myotonia & #migraine each identified as sodium #channelopathies.
en.m.wikipedia.org/wiki/Myotonia
I’m sparing BlueSky from my medical rants, for the most part, but I need to put this on my page so I can refer to it later. Periodic Paralysis is mentioned several times.
#HKPP #Myotonia #Channelopathies #Disease #Ions #Potassium #Sodium
journals.physiology.org/doi/full/10....
