A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in synaptic plasticity that underlies learning and memory. Here, we describe a new recessive neurodevelopmental syndrome with global developmental delay, seizures and intellectual disability. Using linkage analysis and ex...

Descripción completa

Detalles Bibliográficos
Autores principales: Chia, Poh Hui, Zhong, Franklin Lei, Niwa, Shinsuke, Bonnard, Carine, Utami, Kagistia Hana, Zeng, Ruizhu, Lee, Hane, Eskin, Ascia, Nelson, Stanley F, Xie, William H, Al-Tawalbeh, Samah, El-Khateeb, Mohammad, Shboul, Mohammad, Pouladi, Mahmoud A, Al-Raqad, Mohammed, Reversade, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2018
Materias:
Human Biology and Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963920/
https://www.ncbi.nlm.nih.gov/pubmed/29784083
http://dx.doi.org/10.7554/eLife.32451

Ejemplares similares

Ejemplares similares