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

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...

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Bibliographic Details
Main Authors: Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2018-05-01
Series:eLife
Subjects:
neurological disease
Mendelian disorder
oligomerization
intellectual disability
seizures
CAMK2
Online Access:https://elifesciences.org/articles/32451

Internet

https://elifesciences.org/articles/32451

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