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- W2519912093 abstract "In 2 unrelated patients with axial hypotonia, developmental delay and a hyperkinetic movement disorder, a missense mutation was found in codon 209 of the GNAO1 gene. From the still scarce literature on GNAO1 mutations, a clear genotype-phenotype correlation emerged. From the 26 patients reported thus far, 12 patients had epileptic encephalopathy, and 14 had a developmental delay and a hyperkinetic movement disorder. All but 1 of the latter patients had missense mutations in GNAO1 codon 209 or 246, which thus appear to be mutation hotspots. At least 2 sibling pairs showed that the recurrence risk after 1 affected child with a GNAO1 mutation might be relatively high (5-15%), due to apparent gonadal mosaicism in the parents." @default.
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- W2519912093 date "2016-09-29" @default.
- W2519912093 modified "2023-10-17" @default.
- W2519912093 title "Recurrent <i>GNAO1</i> Mutations Associated With Developmental Delay and a Movement Disorder" @default.
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- W2519912093 doi "https://doi.org/10.1177/0883073816666474" @default.
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