2015年3月26日 · CACNA1A is a gene that plays a vital role in the communication between neurons in the brain. It is located on the short arm of chromosome 19 at position 13.13 and codes for the alpha-1A subunit of the P/Q-type voltage-gated calcium channel called Cav2.1.

2017年7月24日 · How Changes on the CACNA1A Gene Can Affect People: CACNA1A variants are associated with multiple neurological disorders. Individuals exhibit a variety of symptoms that fall on a spectrum from mild to severe.

CACNA1A Foundation is a parent-led 501(c)(3) non-profit. We are dedicated to creating awareness and finding a cure for CACNA1A genetic variants.

CACNA1A-related Hemiplegic Migraine is a medical emergency that requires immediate treatment to prevent permanent damage, or even death. It should be treated with the same sense of urgency as a seizure.

Those with CACNA1A variants have different sets of symptoms and no two patients are precisely the same. Early intervention, intensive therapies and appropriate seizure control are critical factors in patient outcomes.

The CACNA1A Foundation is spearheading an effort to bring together hemiplegic migraine expert clinicians, researchers and families to develop and publish a consensus-based treatment guidelines resource for CACNA1A-related hemiplegic migraines.

In some patients with CACNA1A mutations there is a condition that has been labeled as hemiplegic migraine but can be progressive and severe, resulting in uncontrolled seizures, and/or potentially life-threatening brain swelling. It appears these are linked with certain variants in the CACNA1A gene including: p.S218L, p.R1349Q, or p.V1396M. In ...

CACNA1A Foundation is a parent-led 501(c)(3) non-profit. We are dedicated to creating awareness and finding a cure for CACNA1A genetic variants. [email protected]

2024年12月16日 · The Disease Concept Model Study is a groundbreaking initiative designed to uncover the key impacts of CACNA1A-related disorders on individuals and their caregivers. By identifying priority symptoms and challenges, this tool helps stakeholders—including the FDA—better understand the full burden of these disorders and the need for targeted ...

To find specific treatment options and a cure for CACNA1A patients by building a collaborative network of patients, families, clinicians and scientists that will work together to raise awareness and accelerate the understanding, diagnosis and treatment of CACNA1A-linked diseases.