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GNB1 Encephalopathy: Clinical Case Report and Literature Review
Highlights
- Rare genetic disease caused by pathogenic variants in the GNB1 gene
- Only around 68 cases documented worldwide
- Main symptoms include mild developmental delay, cognitive impairment, dystonia, and nystagmus
- Diagnosis relies on genetic testing due to low specificity of symptoms
- No standardized treatment guidelines available
- Deep brain stimulation, intrathecal baclofen pump, and some preclinical trial medications show promise
GNB1 encephalopathy is a rare genetic disease caused by pathogenic variants in the G Protein Subunit Beta 1 (GNB1) gene, with only around 68 cases documented worldwide. The most common symptoms include mild developmental delay, cognitive impairment, prominent generalized dystonia, and horizontal nystagmus. The diagnosis of GNB1 encephalopathy relies on genetic testing due to the low specificity of symptoms, and there are currently no standardized treatment guidelines available. However, deep brain stimulation, intrathecal baclofen pump, and some medications in preclinical trials appear to be the most promising treatment options for this condition.
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