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Newly Diagnosed You are not alone

Getting a rare disease diagnosis can be a scary time in a family's life. Know that you are not alone. 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. We are a small but mighty community, and we are in this fight together.

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 CACNA1A-Related Disorders

CACNA1A is not the name of a medical condition but is rather the name of the gene that is affected. When a disorder is traced back to a disease-causing (pathogenic) variant in the CACNA1A gene, it is called a CACNA1A-related disorder.

 Hypokalemic periodic paralysis due to CACNA1S gene mutation

Hypokalemic periodic paralysis (HypoPP) is a relatively rare but treatable disorder caused by mutations in the CACNA1S gene. HypoPP patients may experience paralytic episodes associated with hypokalemia and, infrequently, may develop late-onset proximal myopathy. The paralytic attacks are characterized by reversible flaccid paralysis and, in most cases, spare the respiratory muscles and heart.

Articles of Interest

CACNA1A mutations

In 1996, Ophoff et al.1 showed that familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2) are both caused by mutations within CACNA1A, a gene encoding for the α1A subunit of a neuronal P/Q type calcium channel.

CACNA1A – five things to know in 2022

As with many channelopathies, CACNA1A-related disorders may present with gain-of-function (GoF) and loss-of-function (LoF) phenotypes. We are in the process of understanding the clinical range of both presentations, which is critical as only the GoF variants carry the risk of hemiplegic migraine. Outlining both domains further in the next few years will give us an even more complete picture of the LoF versus GoF presentations.

CACNA1A – this is what you need to know

This is the Epilepsiome page for CACNA1A, a gene for both a channelopathy and trinucleotide repeat disorder, a gene for early childhood-onset and late onset adult neurological disorders, and a gene responsible for both episodic neurological conditions and neurodegenerative diseases.

CACNA1A – this is what you need to know (2015)

In a nutshell. CACNA1A codes for a neuronal ion channel, the alpha-1a subunit of a voltage-dependent P/Q calcium channel, which is expressed widely throughout the CNS. Until two years ago, you were probably completely safe ignoring CACNA1A in the context of epilepsy and omitting CACNA1A from a potential list of epilepsy genes. CACNA1A is mainly a gene for familial ataxias and hemiplegic migraines with little connection to epilepsy. However, there are some lines of evidence suggesting that some patients with CACNA1A mutations may have epilepsy and no other neurological features.

CACNA1E encephalopathy: a new calcium channel disease

We have known for over a decade that disease-causing variants in CACNA1A cause a spectrum of neurological disorders, including developmental and epileptic encephalopathies. But evidence of a role for other neuronal calcium channels in epilepsy has been sparse until now.

Channelopathies

Hypokalemic periodic paralysis is the most common form of periodic paralysis and the majority of the cases are caused by mutations in the skeletal muscle voltage-gated calcium channel gene, CACNA1S, or the sodium channel gene,

Four diseases, One Gene: CACNA1A

CACNA1A is a gene that instructs brain cells to make a calcium channel protein, called Cav2.1, whose task is important to help neurons communicate. Three different mutation types are already known to disrupt and derail the work of Cav2.1 and lead to three distinct neurological diseases.

Get to Know CACNA1A Foundation

CACNA1A-related disorders can cause serious health emergencies, including status epilepticus with respiratory distress and severe hemiplegic migraines. Extended hospitalizations due to these emergencies are not uncommon.

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.

The Science of CACNA1A

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. This subunit helps to form the pore (hole) of the channel through which ions flow. A change in the gene alters the function of the channel and affects the release of neurotransmitters.

What Is CACNA1A?

The CACNA1A gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium (calcium ions) across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.

Resources

CACNA1A Foundation

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.

RareChromo.org

CACNA1A-related disorders are caused by specific changes to a gene called CACNA1A. CACNA1A is an abbreviation of the gene’s full name, ‘calcium voltagegated channel subunit alpha 1A’ which is a description of of the protein coded for by the gene. Calcium channels are important for movement of calcium ions into many of our body’s cells, which in turn activates a number of important processes.