Hypomagnesemia and seizures in a patient with an SOS1 mutation

Published:September 26, 2021DOI:https://doi.org/10.1016/j.seizure.2021.09.017
      Noonan syndrome (NS) is an autosomal dominant multisystem disorder. The son of sevenless homolog 1 (symbolized SOS1) gene encodes a guanine nucleotide exchange factor (GEF) for Ras proteins.[
      • van Trier D.C.
      • Rinne T.
      • Noordam K.
      • Draaisma J.M.
      • van der Burgt I.
      Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
      ] Genetic disorders in which the SOS1 mutation has been confirmed include NS. Missense mutations in SOS1 account for roughly 10% of NS.[
      • Roberts A.E.
      • Allanson J.E.
      • Tartaglia M.
      • Gelb B.D.
      ]

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