Associated Papers
Genetic Abnormalities in Neurodevelopmental Disorders with Multidimensional Impairment.
Hanin C et al.
Journal of Molecular Neuroscience : Mn, 2025
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B et al.
Brain : a Journal of Neurology, 2024
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W et al.
Cellular and Molecular Life Sciences : Cmls, 2023
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden BPGH et al.
European Journal of Human Genetics : Ejhg, 2023
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
Peng SX et al.
Molecular Psychiatry, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hamanaka K et al.
Human Genetics, 2022
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.
Trivisano M et al.
Seizure, 2020
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK et al.
Orphanet Journal of Rare Diseases, 2014
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].
Arvio M et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2014
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