May 13, 2016
Calcium voltage-gated channel subunit alpha1 A
The CACNA1A gene codes for the alpha-1 subunit of the CaV2.1 calcium channel. This subunit helps to form the pore of the channel where ions flow (Kordasiewicz et al., 2006).
Changes in the CACNA1A gene have been found in individuals with episodic ataxia, familial hemiplegic migraines, and spinocerebellar ataxia.
A change in the CACNA1A gene was also identified in a UDN participant and other patients with similar symptoms.
The participant, an 8-year-old female with a neurological condition, was found to carry the following de novo genetic variant in the CACNA1A gene: c.5018G>C/p.R1673P.
When the patient was 4 months old, she was noticed to have poor head control and low muscle tone. At 10 months, she had a brain MRI that showed mild thinning of the nerve fibers that join the two hemispheres of the brain (called the corpus callosum) and delay in myelination of deep white matter in the brain. At age 3, she had another brain MRI that showed a decrease in the area of the brain called the cerebellum. She does not have a history of seizures. Currently the patient is able to sit, crawl, and walk with the assistance of a walker. However, she does lose stability easily and primarily uses a wheelchair. She does not communicate verbally, but does communicate through sign language and an iPad. Overall the patient is delayed developmentally, but is making progress in gaining developmental skills and has not regressed in any skills. She feeds herself and is very social, engaged, and friendly.
Some of her other features include:
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