Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability

Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in the neuronal CAMK2A gene have been recently associated with “intellectual developmental disorder, autosomal dominant 53″ (OMIM#...

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Detalles Bibliográficos
Autores principales: Lintas, Carla, Facchiano, Angelo, Azzarà, Alessia, Cassano, Ilaria, Tabolacci, Claudio, Galasso, Cinzia, Gurrieri, Fiorella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379032/
https://www.ncbi.nlm.nih.gov/pubmed/37510258
http://dx.doi.org/10.3390/genes14071353

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379032/
https://www.ncbi.nlm.nih.gov/pubmed/37510258
http://dx.doi.org/10.3390/genes14071353

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