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16 Possible Causes for Mutation in the GRIN2B Gene

  • West Syndrome

    After detection of mutations in a novel epilepsy gene, we investigated functional effects in Xenopus laevis oocytes and screened a follow-up cohort.[ncbi.nlm.nih.gov] We revealed de novo mutations in GRIN2B encoding the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor in 2 individuals with West syndrome and severe developmental[ncbi.nlm.nih.gov]

  • Dravet Syndrome

    In 13/17, these mutations were detected in genes with known relationship to neurodevelopmental disorders.[content.iospress.com] In addition to the TCF4 and GRIN2B mutations noted by Luciarello et al., this study also identified mutations in IQSEC2, associated with X-linked cognitive impairment; SMC1A[content.iospress.com] These genes were particularly linked to chromatin regulators and post-synaptic membranes.[content.iospress.com]

  • Smith-Magenis Syndrome

    One sibling had Smith-Magenis Syndrome and a nonsense mutation in the RAI1 gene.[ncbi.nlm.nih.gov] The second sibling had a de novo mutation in GRIN2B, which resulted in markedly reduced glutamate potency of the encoded receptor.[ncbi.nlm.nih.gov]

  • Lennox-Gastaut Syndrome

    Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L.[ncbi.nlm.nih.gov] Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein ( P 8 ), as has been reported previously[dx.doi.org] Other genes with de novo mutations in this cohort include CACNA1A , CHD2 , FLNA , GABRA1 , GRIN1 , GRIN2B , HNRNPU , IQSEC2 , MTOR and NEDD4L.[doi.org]

  • Kahrizi Syndrome

    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.[ngfn.de]

  • Early Infantile Epileptic Encephalopathy 28

    ), caused by mutation in the GRIN2B gene (138252); EIEE28 (616211), caused by mutation in the WWOX gene (605131); EIEE29 (616339), caused by mutation in the AARS gene (601065[ncbi.nlm.nih.gov] […] in the HCN1 gene (602780); EIEE25 (615905), caused by mutation in the SLC13A5 gene (608305); EIEE26 (616056), caused by mutation in the KCNB1 gene (600397); EIEE27 (616139[ncbi.nlm.nih.gov] […] gene (611623); EIEE22 (300896), caused by mutation in the SLC35A2 gene (314375); EIEE23 (615859), caused by mutation in the DOCK7 gene (615730); EIEE24 (615871), caused by mutation[ncbi.nlm.nih.gov]

  • Autosomal Recessive Mental Retardation 31

    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.[ngfn.de]

  • Early Infantile Epileptic Encephalopathy 26

    ({616139}), caused by mutation in the GRIN2B gene ({138252}); EIEE28 ({616211}), caused by mutation in the WWOX gene ({605131}); EIEE29 ({616339}), caused by mutation in[bio2rdf.org] […] in the HCN1 gene ({602780}); EIEE25 ({615905}), caused by mutation in the SLC13A5 gene ({608305}); EIEE26 ({616056}), caused by mutation in the KCNB1 gene ({600397}); EIEE27[bio2rdf.org] ); EIEE22 ({300896}), caused by mutation in the SLC35A2 gene ({314375}); EIEE23 ({615859}), caused by mutation in the DOCK7 gene ({615730}); EIEE24 ({615871}), caused by mutation[bio2rdf.org]

  • Macrocephaly - Intellectual Disability - Autism Syndrome

    Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia. Mol Psychiatry 2001; 6 : 211–216. 4. Wu SL, Wang WF, Shyu HY, Ho YJ, Shieh JC, Fu YP et al.[nature.com]

  • Macrocephaly-Developmental Delay Syndrome

    Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia. Mol Psychiatry 2001; 6 : 211–216. 4. Wu SL, Wang WF, Shyu HY, Ho YJ, Shieh JC, Fu YP et al.[nature.com]

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