CACNA1A-related complex neurodevelopmental disorder

CACNA1A-related complex neurodevelopmental disorder is a progressive condition that affects brain development. It is caused by changes in the CACNA1A gene and typically starts showing signs around age 1. This condition can impact various areas of development and may affect learning and movement. Many people with this condition experience intellectual disability. In addition, there can be episodes of epileptic encephalopathy, learning difficulties, and other neurologic signs such as benign paroxysmal torticollis of infancy, paroxysmal tonic upgaze, absence epilepsy, episodic ataxia, and hemiplegic migraines.

Common symptoms in people with this condition include intellectual disability, epileptic encephalopathy, and learning difficulties. Other features can include episodic ataxia, absence epilepsy, benign paroxysmal torticollis of infancy, paroxysmal tonic upgaze, and hemiplegic migraines. These symptoms can vary among people with the disorder.

The disorder is caused by variants in the CACNA1A gene, which plays a role in the proper function of brain cells. Changes in this gene can disrupt normal neurological development and lead to the symptoms observed.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.