EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease

OBJECTIVE: To demonstrate that de novo missense single nucleotide variants (SNVs) in EIF2AK2 cause a neurodevelopmental disorder with leukoencephalopathy resembling Pelizaeus-Merzbacher disease (PMD). METHODS: A retrospective chart review was performed of 2 unrelated males evaluated at a single inst...

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Detalles Bibliográficos
Autores principales: Calame, Daniel G., Hainlen, Meagan, Takacs, Danielle, Ferrante, Leah, Pence, Kayla, Emrick, Lisa T., Chao, Hsiao-Tuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862097/
https://www.ncbi.nlm.nih.gov/pubmed/33553620
http://dx.doi.org/10.1212/NXG.0000000000000539

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862097/
https://www.ncbi.nlm.nih.gov/pubmed/33553620
http://dx.doi.org/10.1212/NXG.0000000000000539

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