- 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.
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