Jun 08, 2017
G protein subunit alpha o1
The GNAO1 gene codes for an alpha subunit of the guanine nucleotide-binding proteins (G proteins) (Strathmann et al., 1990).
Changes in the GNAO1 gene have been found in individuals with epileptic encephalopathy, early infantile, 17 (EIEE17).
A change in the GNAO1 gene was also identified in a UDN participant. The participant, a 15 year old female with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria) was found to carry the following genetic change in the GNAO1 gene: c.662C>A/ p.A221D.
Early in life, the patient had trouble meeting her developmental milestones (global developmental delay). She struggled with speech (expressive and receptive language delay) and did not walk until age 3.
At age 4, she started to have muscle weakness and spasms in her legs and arms (spastic paraparesis). She also began to have trouble with fine motor tasks and her movements and speech slowed. Her symptoms would get progressively worse as the day would go on. She was started on a trial of Sinemet, which helped relieve some of her symptoms. She does not have seizures.
Some of her other features include:
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