Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature
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DOI: 10.1055/s-0037-1603977
Abstract: Abstract Mutations in GNAO1 (guanine nucleotide‐binding protein, alpha‐activating activity polypeptide O) were recently identified as being causative for early epileptic encephalopathy. Since then approximately 27 patients with severe developmental delay and different neurological phenotypes for… read more here.
Keywords: phenotype; novo mutations; phenotype novo; gnao1 four ... See more keywords