CACNA1A

Summary

CACNA1A (calcium voltage-gated channel subunit alpha 1A) is a gene that provides instructions for making calcium channels, which help transmit electrical signals in the brain.
Changes in the CACNA1A gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent.
Changes to the CACNA1A gene can cause neurological conditions such as epilepsy and intellectual disabilities, as well as other conditions such as episodic ataxia, hemiplegic migraine, and spinocerebellar ataxia.
Seizures associated with the CACNA1A gene tend to begin a few weeks to months after birth.
The types of seizures range from mild to severe, depending on the person.
Others may develop developmental and epileptic encephalopathy (DEE), which is a type of epilepsy that is often difficult to manage because of high seizure frequency and resistance to anti-seizure medications (ASMs).

Diagnosis for CACNA1A epilepsy will require genetic testing.

Contacts and information