A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits

OBJECTIVE: To identify inherited or de novo mutations associated with a suite of neurodevelopmental abnormalities in a 10-year-old patient displaying ataxia, motor and speech delay, and intellectual disability. METHODS: We performed whole-exome sequencing of the proband and her parents. A pathogenic...

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Detalles Bibliográficos
Autores principales: Guzmán, Yomayra F., Ramsey, Keri, Stolz, Jacob R., Craig, David W., Huentelman, Mathew J., Narayanan, Vinodh, Swanson, Geoffrey T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286855/
https://www.ncbi.nlm.nih.gov/pubmed/28180184
http://dx.doi.org/10.1212/NXG.0000000000000129

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286855/
https://www.ncbi.nlm.nih.gov/pubmed/28180184
http://dx.doi.org/10.1212/NXG.0000000000000129

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