Phenotypes in children with GNAO1 encephalopathy in China.
Frontiers in pediatrics(2023)
Abstract
We analyzed clinical data of 27 cases of -related encephalopathy in China. MD seemed to be the central feature and was most difficult to control. LOF or PLOF variants were significantly associated with developmental and epileptic encephalopathy. The active intervention of severe dystonia may prevent death due to status dystonicus. However, future studies with larger samples are needed to confirm these results.
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Key words
gnao1 encephalopathy
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