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

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