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Page 1
Molecular Insights into IQSEC2 Disease.
Levy NS, Borisov V, Lache O, Levy AP. Levy NS, et al. Int J Mol Sci. 2023 Mar 5;24(5):4984. doi: 10.3390/ijms24054984. Int J Mol Sci. 2023. PMID: 36902414 Free PMC article. Review.
Recent insights into IQSEC2 disease are summarized in this review as follows: (1) Exome sequencing of IQSEC2 patient DNA has led to the identification of numerous missense mutations that delineate at least six and possibly seven essential functional domains present …
Recent insights into IQSEC2 disease are summarized in this review as follows: (1) Exome sequencing of IQSEC2 patient DNA has l …
IQSEC2-Associated Intellectual Disability and Autism.
Levy NS, Umanah GKE, Rogers EJ, Jada R, Lache O, Levy AP. Levy NS, et al. Int J Mol Sci. 2019 Jun 21;20(12):3038. doi: 10.3390/ijms20123038. Int J Mol Sci. 2019. PMID: 31234416 Free PMC article. Review.
Mutations in IQSEC2 cause intellectual disability (ID), which is often accompanied by seizures and autism. ...Activation of NMDA receptors results in calcium ion influx and binding to calmodulin present on the IQSEC2 IQ domain. Calcium/calmodulin induces a conformat …
Mutations in IQSEC2 cause intellectual disability (ID), which is often accompanied by seizures and autism. ...Activation of NMDA rece …
Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions.
Bai G, Li H, Qin P, Guo Y, Yang W, Lian Y, Ye F, Chen J, Wu M, Huang R, Li J, Lu Y, Zhang M. Bai G, et al. J Cell Biol. 2023 Dec 4;222(12):e202307117. doi: 10.1083/jcb.202307117. Epub 2023 Oct 3. J Cell Biol. 2023. PMID: 37787765 Free PMC article.
IQSEC2 (aka BRAG1) is a guanine nucleotide exchange factor (GEF) highly enriched in synapses. ...Our study demonstrates that different mutations on one gene such as Iqsec2 can have distinct neurological phenotypes and accordingly will require different therapeutic s …
IQSEC2 (aka BRAG1) is a guanine nucleotide exchange factor (GEF) highly enriched in synapses. ...Our study demonstrates that differen …
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.
Leoncini S, Boasiako L, Lopergolo D, Altamura M, Fazzi C, Canitano R, Grosso S, Meloni I, Baldassarri M, Croci S, Renieri A, Mastrangelo M, De Felice C. Leoncini S, et al. Children (Basel). 2023 Aug 24;10(9):1442. doi: 10.3390/children10091442. Children (Basel). 2023. PMID: 37761403 Free PMC article.
High severity in both the CNS and extra-CNS manifestations for the IQSEC2 patients was documented and related to a consistently adverse quality of life. ...In conclusion, the IQSEC2 encephalopathy is a rare and likely underdiagnosed developmental encephalopathy lead …
High severity in both the CNS and extra-CNS manifestations for the IQSEC2 patients was documented and related to a consistently adver …
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F. Lopergolo D, et al. Clin Genet. 2021 Mar;99(3):462-474. doi: 10.1111/cge.13908. Epub 2021 Jan 9. Clin Genet. 2021. PMID: 33368194
IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). ...With the aim of establishing a genotype-phenotype correlation, we collected data of 16 patients harboring IQSEC2 point mutations (15 of them previously unreported) and of fiv …
IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). ...With the aim of establishing a genotype-p …
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
Shoubridge C, Harvey RJ, Dudding-Byth T. Shoubridge C, et al. Hum Mutat. 2019 Jan;40(1):5-24. doi: 10.1002/humu.23670. Epub 2018 Nov 8. Hum Mutat. 2019. PMID: 30328660 Review.
The IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disability (ID) as the cardinal feature. ...There is a growing number of female patients with de novo loss-of-function variants in IQSEC2 have a more severe phenotype tha …
The IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disability (ID) as the cardinal featu …
IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes.
Liu X, Zhang S, Wan L, Zhang X, Wang H, Zhang H, Zhu G, Liang Y, Yan H, Zhang B, Yang G. Liu X, et al. Front Mol Neurosci. 2022 Oct 3;15:984776. doi: 10.3389/fnmol.2022.984776. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36267700 Free PMC article.
The isoleucine-glutamine (IQ) motif and Sec7 domain-containing protein 2 (IQSEC2) gene, located at Xp11. 2, are associated with nervous system diseases, such as epilepsy, autism, and intellectual disabilities. Gender-related differences in the severity of phenotype severit …
The isoleucine-glutamine (IQ) motif and Sec7 domain-containing protein 2 (IQSEC2) gene, located at Xp11. 2, are associated with nervo …
IQSEC2 Deficiency Results in Abnormal Social Behaviors Relevant to Autism by Affecting Functions of Neural Circuits in the Medial Prefrontal Cortex.
Mehta A, Shirai Y, Kouyama-Suzuki E, Zhou M, Yoshizawa T, Yanagawa T, Mori T, Tabuchi K. Mehta A, et al. Cells. 2021 Oct 12;10(10):2724. doi: 10.3390/cells10102724. Cells. 2021. PMID: 34685703 Free PMC article.
IQSEC2 KO mice exhibited autistic behaviors, such as overgrooming and social deficits. ...Reexpression of IQSEC2 isoform 1 in the mPFC of IQSEC2 KO mice using adeno-associated virus (AAV) rescued both synaptic and social deficits, suggesting that impaired syn …
IQSEC2 KO mice exhibited autistic behaviors, such as overgrooming and social deficits. ...Reexpression of IQSEC2 isoform 1 in …
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Shoubridge C, Dudding-Byth T, Pasquier L, Goel H, Yap P, McConnell V. Shoubridge C, et al. Clin Genet. 2022 Jul;102(1):72-77. doi: 10.1111/cge.14136. Epub 2022 Apr 6. Clin Genet. 2022. PMID: 35347702 Free PMC article.
Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. ...We describe the phenotypic spectrum associated with missense variants in PH domain of …
Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, w …
98 results