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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Autors principals:	Bonnie K. Dwyer, Danielle C. M. Veenma, Kiki Chang, Howard Schulman, Geeske M. Van Woerden
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2022-05-01
Col·lecció:	Frontiers in Pharmacology
Matèries:	case report human genetics ca/calmodulin dependent protein kinase 2B Camk2b CAMKIIβ developmental delay
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fphar.2022.794008/full
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