Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies

Developmental and epileptic encephalopathies (DEE) caused by heterozygous deleterious variants in Cut Like Homeobox2 (CUX2) is rare. To the best of our knowledge the only variant associated with a phenotype in this gene is the de novo missense variant c.1768G > A, p.Glu590Lys; however, further ad...

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Detalles Bibliográficos
Autores principales: Zhang, Feng, Li, Fuwei, Chen, Fujian, Huang, Jinrong, Luo, Qiong, Du, Xilong, Zhou, Jiapeng, Gu, Weiyue, Xu, Kaishou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9283828/
https://www.ncbi.nlm.nih.gov/pubmed/35846140
http://dx.doi.org/10.3389/fgene.2022.808181

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9283828/
https://www.ncbi.nlm.nih.gov/pubmed/35846140
http://dx.doi.org/10.3389/fgene.2022.808181

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