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...
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 |
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Format: | Article |
Language: | English |
Published: |
eLife Sciences Publications Ltd
2018-05-01
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Series: | eLife |
Subjects: | |
Online Access: | https://elifesciences.org/articles/32451 |
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