A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability

• Main Authors: Chia, P.H, Zhong, F.L, Niwa, S, Bonnard, C, Utami, K.H, Zeng, R, Lee, H, Eskin, A, Nelson, S.F, Xie, W.H, Al-Tawalbeh, S, El-Khateeb, M, Shboul, M, Pouladi, M.A, Al-Raqad, M, Reversade, B
• Other Authors: MEDICINE
• Format: Article
• Published: 2020
• Subjects: calcium calmodulin dependent protein kinase II; histone; protein; protein unc 43; tyrosine; unclassified drug; CAMK2A protein, human; animal experiment; animal model; Article; Caenorhabditis elegans; case report; chromosome 5q; clinical article; consanguineous marriage; controlled study; convulsion; developmental delay; firing rate; germline mutation; growth disorder; homozygote; human; human cell; induced pluripotent stem cell; intellectual impairment; loss of function mutation; missense mutation; myoclonus seizure; nonhuman; protein function; protein localization; seizure; synapse; whole exome sequencing; chromosome 5; consanguinity; developmental disorder; DNA sequence; family health; genetic linkage; genetics; Jordan; Calcium-Calmodulin-Dependent Protein Kinase Type 2; Chromosomes, Human, Pair 5; Consanguinity; Developmental Disabilities; Family Health; Genetic Linkage; Homozygote; Humans; Intellectual Disability; Loss of Function Mutation; Mutation, Missense; Seizures; Sequence Analysis, DNA
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/177855
• Institution: National University of Singapore

10.7554/eLife.32451