Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleSomatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.AuthorsTakahashi, S.; Matsufuji, M.; Yonee, C.; Tsuru, H.; Sano, N.; Oguni, H.AbstractA heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.SubjectsGLUCOSE transporter 1 deficiency syndrome; NEUROLOGICAL disorders; PSYCHOMOTOR disorders; PHENOTYPES; MOSAICISMPublicationClinical Genetics, 2017, Vol 91, Issue 6, p932ISSN0009-9163Publication typeArticleDOI10.1111/cge.12902