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

Screenshot of Figure 3: Genotype-phenotype correlations for Cav3.1 variants. A. Radar plots illustrating the distribution of the clinical features of the representative phenotypes in the 32 patients (new and previously reported) examined in this study (upper panel), in the 13 patients carrying the p.(Ala961Thr) variant (lower-left panel), and in the 6 patients carrying the p.(Met1531Val) variant (lower-right panel). Note that the cerebellar phenotype (motor delay, cerebellar atrophy, and ataxia) found in all p.(Ala961Thr) and p.(Met1531Val) patients was not retrieved consistently in patients carrying the other variants. Note also that one major difference is the near-complete absence of seizure phenotype in p.(Ala961Thr) patients (1 of 13), compared with p.(Met1531Val) patients (6 of 6).

Beyond #spinocerebellar ataxia phenotypic expansion of #pathogenic variants in #CACNA1G bit.ly/3CA6zWu #cerebellum #neurodevelopment #calciumchannel

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