GNB1 Encephalopathy: Clinical Case Report and Literature Review
Matas Nasvytis,
Julija Čiauškaitė,
Giedrė Jurkevičienė
Abstract: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. Although most cases had been caused by de novo germline mutations, in this case, the pathogenic variant was inherited from patient’s mother, indicating an autosomal dominant inheritance pattern. The patient presented at 25 years of age with mild developmental delay and cognitive impairment, prominent generalized dystonia, and horizontal nystagm… Show more
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