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 theyβre so important for health.
#calcium #channelopathies #raredisease
17.06.2025 12:34 β π 1 π 1 π¬ 0 π 0
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 theyβre so important for health.
#calcium #channelopathies #raredisease
17.06.2025 12:34 β π 1 π 1 π¬ 0 π 0
Purple graphic featuring a unicorn with pink mane and green stars. White text reads:
βLOOKING 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.β
Website: thevgccc.org
#CACNA1F
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
22.05.2025 14:02 β π 0 π 0 π¬ 0 π 0
Purple background graphic with the heading βLOOKING FOR THE ONE IN A MILLIONβ 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
09.05.2025 17:00 β π 2 π 1 π¬ 0 π 0
Purple background graphic with the heading βLOOKING FOR THE ONE IN A MILLIONβ 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
02.05.2025 13:26 β π 3 π 3 π¬ 0 π 0
Purple background graphic with the heading βLOOKING FOR THE ONE IN A MILLIONβ 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
02.05.2025 13:26 β π 3 π 3 π¬ 0 π 0
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
08.04.2025 09:20 β π 2 π 2 π¬ 0 π 0
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
08.04.2025 09:20 β π 2 π 2 π¬ 0 π 0
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
01.04.2025 10:50 β π 4 π 1 π¬ 0 π 0
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
01.04.2025 10:50 β π 4 π 1 π¬ 0 π 0
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
18.03.2025 17:57 β π 0 π 0 π¬ 0 π 0
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
11.03.2025 15:01 β π 1 π 1 π¬ 0 π 0
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
11.03.2025 15:01 β π 1 π 1 π¬ 0 π 0
A digital graphic with a purple background features white text and an illustrated unicorn with a light purple mane. The heading, "LOOKING FOR THE ONE IN A MILLION," is in bold uppercase letters. The text below explains that the CACNA1D gene regulates calcium entry in tissues like the heart and brain. It describes how changes in this gene can lead to conditions such as hypoglycemia, hyperinsulinism, bradycardia, epilepsy, autism spectrum disorder, neurological delays, and difficulties with speech and walking. The message invites families and individuals with confirmed CACNA1D gene changes to join the CACNA1D community and provides a contact call-to-action. The VGCCC website, "thevgccc.org," is listed at the bottom. Small green stars are scattered around the unicorn.
#CACNA1D
Raising awareness and promoting collaboration across the calcium channelopathies. Find us at thevgccc.org
07.03.2025 15:29 β π 1 π 1 π¬ 0 π 0
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
06.03.2025 15:11 β π 6 π 6 π¬ 0 π 0
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
06.03.2025 15:11 β π 6 π 6 π¬ 0 π 0
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
28.02.2025 13:05 β π 6 π 5 π¬ 1 π 0
All fixed π
28.02.2025 13:58 β π 1 π 0 π¬ 0 π 0
Great spot Peter, will sort. Thank you
28.02.2025 13:50 β π 1 π 0 π¬ 1 π 0
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
28.02.2025 13:05 β π 6 π 5 π¬ 1 π 0
There is a global rare disease funding crisis.
#RareDiseaseDay
05.02.2025 22:15 β π 0 π 1 π¬ 0 π 0
Can you help put research and rare disease in the spotlight?
09.01.2025 12:06 β π 0 π 0 π¬ 0 π 0
What is the VGCCC?
Voltage-Gated Calcium Channels act like doors on cells, opening when there's an electrical signal. They let calcium ions* flow in, helping with muscle movement, neurotransmission, and other important body functions.
The genes that represent the Voltage-Gated Calcium Channels are CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I and CACNA1S.
In the same way the channels work together like a team to ensure proper cell communication and function, we are collaborating as patient gene groups with a network of researchers to raise awareness and accelerate knowledge for all our gene groups. We are the Voltage-Gated Calcium Channel Collective.
* Calcium ions are positively charged particles of calcium, an essential mineral found in the body.
The Voltage-Gated #Calcium Channel Collective - a #CACNA1A, #CACNA1B, #CACNA1C, #CACNA1D, #CACNA1E, #CACNA1F, #CACNA1G, #CACNA1H, #CACNA1I & #CACNA1S collaboration alongside researchers and clinicians raising awareness, accelerating knowledge, signposting and empowering our communities.
#IonChannels
18.11.2024 15:17 β π 6 π 3 π¬ 0 π 0
From a bright yellow background shouts the text "Research & rare diseases deserve the spotlight!" encouraging you to leave Bluesky momentarily and Vote for the film 'Connections' on the Smiley Charity Film Awards website.
What if a compelling case for continued investment in #RareDisease #research and #support was told through the medium of film?
Finalists are decided by public vote. Please support by voting:
smileycharityfilmawards.com/films/connec...
and share with your network connections.
π§¬π¦ #RareDiseases
21.11.2024 17:27 β π 1 π 1 π¬ 0 π 0
May be a bit premature, but here is the Starter Pack I am trying to populate for #IonChannel research. Ping me and Iβll add you obviously! (Or to be removed)
go.bsky.app/6taxHfx
@jgenphysiol.bsky.social @auditorynerves.bsky.social @plesslab.bsky.social @rainbowlabuol.bsky.social
19.11.2024 14:26 β π 29 π 15 π¬ 20 π 1
Save the date:
CACNA1E Family meeting, Berlin, Germany 12+13 April 2025
Next #CACNA1E Family Meeting: 12 + 13 April 2025.
www.cacna1e.org
18.11.2024 15:28 β π 2 π 0 π¬ 0 π 0
What is the VGCCC?
Voltage-Gated Calcium Channels act like doors on cells, opening when there's an electrical signal. They let calcium ions* flow in, helping with muscle movement, neurotransmission, and other important body functions.
The genes that represent the Voltage-Gated Calcium Channels are CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I and CACNA1S.
In the same way the channels work together like a team to ensure proper cell communication and function, we are collaborating as patient gene groups with a network of researchers to raise awareness and accelerate knowledge for all our gene groups. We are the Voltage-Gated Calcium Channel Collective.
* Calcium ions are positively charged particles of calcium, an essential mineral found in the body.
The Voltage-Gated #Calcium Channel Collective - a #CACNA1A, #CACNA1B, #CACNA1C, #CACNA1D, #CACNA1E, #CACNA1F, #CACNA1G, #CACNA1H, #CACNA1I & #CACNA1S collaboration alongside researchers and clinicians raising awareness, accelerating knowledge, signposting and empowering our communities.
#IonChannels
18.11.2024 15:17 β π 6 π 3 π¬ 0 π 0
PhD Program in Innsbruck, Austria that specializes in voltage-gated calcium channels. We work on its basic biophysical properties and physiological roles in multiple systems (nervous, endocrine, visual, auditory, cardiovascular, muscular).
cavx.at
Supporting children and young adults with Congenital Hyperinsulinism.
Family Support Group
Patient Led Research
Advocacy
Family Days and Conferences
https://linktr.ee/chcharityuk
Empower and unite families affected by v-ATPase genetic disorders
Advance Scientific Research on v-ATPase. Ultimately get a Cure!
𧬠Several ATP6V- genes
The UKβs largest public funder of research
#FundedByYou
Physician Scientist in Epilepsy
Hertie Institute TΓΌbingen
Precision Therapy l RNA-Seq
KCNA2, KCNA1 and SCN1A
For 20+ years, Nanion combines exceptional instrumentation with trusted scientific support, to accelerate successful drug development and scientific discoveries.
Founder of Hope for ULD, wife, mom, grandmother, teacher, animal lover, follower of Jesus, finding great value in truth, integrity and compassion, fighting #RareEpilepsy
Assistant Professor, Department of Human Genetics, Emory University.
Human brain development & disease + stem cell-based models.
bireylab.com
brainorganoidhub.com
Elianaβs Mom. Advocate and Trustee for FamilieSCN2A Foundation. Special Education Teacher. Sports Lover.
Assistant Professor at the University of Iowa studying ion channels and other membrane proteins in π¦ | Previously at HHMI Janelia and MSK Cancer Center | Avid π₯Ύ and π».
The Victor Chang Cardiac Research Institute is dedicated to finding cures for heart disease through world-class medical research.
Sydney, Melbourne & Perth, Australia
www.victorchang.edu.au
Scientist @sergiuppasca.bsky.social lab at Stanford University
Shoshana Levy Early Career Fellow
Autism Speaks Postdoc Fellow
Stem cell models for human diseases
Epileptologist/Head of Neurosciences @cookchildrens, I π #HailState, buffalo wings, art, music & foremost Becky & my daughters. Views are mine, not my employer
Tiampo Family Associate Professor at Tufts University, cancer and epilepsy researcher, fierce advocate for diversity and inclusion, mom of a daughter with the SCN8A epilepsy
@EpilepsySparks Insights Podcast Host & YouTuber π§ 𧬠| International Speaker | PPI Lead | #Epilepsy & #MentalHealth Research fiend | All views my own
rare disease neurogeneticist | epilepsy | epigenetics | iPSCs | mentor & genetics MedEd | here for the science, lab fun & occasionally my tiny hooman
https://sites.northwestern.edu/carvilllab/
Neurologistπ§ Epileptologist, director of
Vithas Clinical Neuroscience Institute & Epilepsy Center - #FND - Neurogeneticsπ§¬
angel.aledo@vithas.es
π§ 𧬠Neuroscientist. Looking for new medicines for #CDKL5, #SCN1A, #SHANK3, #DHPS and other neurological #RareDiseases with #epilepsy