KEGG   VARIANT: 815v1
Entry
815v1                      Variant                                 
Name
CAMK2A mutation
Type
Loss of function
Gene
CAMK2A  calcium/calmodulin dependent protein kinase II alpha [KO:K04515]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114078
Network
nt06528  Calcium signaling
nt06541  Cytoskeleton in neurons
Disease
H00768  Autosomal recessive intellectual developmental disorder
Reference
  Authors
Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B
  Title
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.
  Journal
Elife 7:e32451 (2018)
DOI:10.7554/eLife.32451
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