For Medical Professionals

iPSC neuron cells, back-engineered from a patient’s blood, are being studied in vitro in a Petri dish to better understand CAMK2 mutations and to help find medications that might help for the disorder.

The Science of CAMK2

By Bonnie Dwyer, M.D. a parent board member of CAMK2.org. Read

CAMK2 Case Report and Review of the Literature:

This is a professional medical report to be shared with your doctors.  The importance of this report is that it provides evidence to doctors across the globe that CAMK2 disease can actually be treated.  Not only that, the report lists medications that may be helpful. Download 

The CAMK2 Care Pathway

Developed by a team of physicians specializing in this disorder, the Care Pathway is based on the most recent available scientific research by the CAMK2 Expertise Centre, part of ENCORE. It was designed to support parents and practitioners in delivering the highest-quality medical treatment. Download the Care Pathway here.

Scientific Resources for Professionals

For the full text of articles, email us.

Borghi, Trivisano, Specchio, Tartaglia, Compagnucci. “Understanding the pathogenetic mechanisms underlying altered neuronal function associated with CAMK2B mutations.” Neurosci. Biobehav. Rev. Sept 2023. https://doi.10.1016/j.neubiorev.2023.105299

Pomme M.F. Rigter,Charlotte de Konink,Matthew J. Dunn,Martina Proietti Onori,Jennifer B. Humberson,Matthew Thomas,Caitlin Barnes,Carlos E. Prada,K. Nicole Weaver,Thomas D. Ryan,Oana Caluseriu,Jennifer Conway,Emily Calamaro,Chin-To Fong,Wim Wuyts, Geeske M. van Woerden, et al.  “Role of CAMK2D in neurodevelopment and associated conditions. ” The American Journal of Human Genetics. Feb 2024. https://doi.org/10.1016/j.ajhg.2023.12.016

Akita, Tenpei, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, et al. 2018. “De Novo Variants in CAMK2A and CAMK2B Cause Neurodevelopmental Disorders.” Annals of Clinical and Translational Neurology 5 (3): 280–96.

Chia, Poh Hui, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, et al. 2018. “A Homozygous Loss-of-Function CAMK2A Mutation Causes Growth Delay, Frequent Seizures and Severe Intellectual Disability.” eLife 7 (May). https://doi.org/10.7554/eLife.32451.

Dwyer, Bonnie K., Danielle C. M. Veenma, Kiki Chang, Howard Schulman, and Geeske M. Van Woerden. 2022. “Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de Novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys).” Frontiers in Pharmacology. https://doi.org/10.3389/fphar.2022.794008.

Küry, Sébastien, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, et al. 2017. “De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.” American Journal of Human Genetics 101 (5): 768–88.

Proietti Onori, Martina, Balwina Koopal, David B. Everman, Jessica D. Worthington, Julie R. Jones, Melissa A. Ploeg, Edwin Mientjes, et al. 2018. “The Intellectual Disability-Associated CAMK2G p.Arg292 Pro Mutation Acts as a Pathogenic Gain-of-Function.” Human Mutation 39 (12): 2008–24.

Proietti Onori, Martina, and Geeske M. van Woerden. 2021. “Role of Calcium/calmodulin-Dependent Kinase 2 in Neurodevelopmental Disorders.” Brain Research Bulletin 171 (June): 209–20.

Rizzi, Susanna, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Stefano Giuseppe Caraffi, Gabriele Trimarchi, Claudio Moratti, Rosario Pascarella, Livia Garavelli, and Carlo Fusco. 2020. “Severe Intellectual Disability, Absence of Language, Epilepsy, Microcephaly and Progressive Cerebellar Atrophy Related to the Recurrent de Novo Variant p.(P139L) of the CAMK2B Gene: A Case Report and Brief Review.” American Journal of Medical Genetics. Part A, September. https://doi.org/10.1002/ajmg.a.61803.

CAMK2 Care Pathway, developed by a team of physicians specializing in this disorder, is based on the most recent available scientific research by the CAMK2 Expertise Centre, part of ENCORE. It was designed to support parents and practitioners in delivering the highest-quality medical treatment. Download the Care Pathway here.