An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.
Jin A YoonYongjin YooJe Sang LeeYoung Mi KimYong-Beom ShinPublished in: Molecular genetics & genomic medicine (2018)
This rare case of an p.Arg133His hemizygous MECP2 missense mutation could guide future treatment and follow-up plans for RETT-like phenotypes.