SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine
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DOI: 10.1212/nxg.0000000000200062
Abstract: Background and Objectives Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome (OMIM 617140) is a recently identified neurodevelopmental disorder caused by heterozygous loss-of-function (LoF) variants in SON. Because the SON protein functions as an RNA-splicing regulator, it has been shown… read more here.
Keywords: son; recurrent hemiplegic; hemiplegic migraine; zttk syndrome ... See more keywords