Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys)

Mutations in the genes encoding calcium/calmodulin dependent protein kinase II (CAMK2) isoforms cause a newly recognized neurodevelopmental disorder (ND), for which the full clinical spectrum has yet to be described. Here we report the detailed description of a child with a de novo gain of function...

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Detalles Bibliográficos
Autores principales: Dwyer, Bonnie K., Veenma, Danielle C. M., Chang, Kiki, Schulman, Howard, Van Woerden, Geeske M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9127182/
https://www.ncbi.nlm.nih.gov/pubmed/35620293
http://dx.doi.org/10.3389/fphar.2022.794008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9127182/
https://www.ncbi.nlm.nih.gov/pubmed/35620293
http://dx.doi.org/10.3389/fphar.2022.794008

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