SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of PRRT2

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 that some clinical...

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Detalles Bibliográficos
Autores principales: Langford, Jordan, Vukadin, Lana, Carey, John C., Botto, Lorenzo D., Velinder, Matt, Mao, Rong, Miller, Christine E., Filloux, Francis, Ahn, Eun-Young Erin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091367/
https://www.ncbi.nlm.nih.gov/pubmed/37057295
http://dx.doi.org/10.1212/NXG.0000000000200062

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