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IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.
Brant B, Stern T, Shekhidem HA, Mizrahi L, Rosh I, Stern Y, Ofer P, Asleh A, Umanah GKE, Jada R, Levy NS, Levy AP, Stern S. Brant B, et al. Among authors: jada r. Mol Psychiatry. 2021 Dec;26(12):7498-7508. doi: 10.1038/s41380-021-01281-0. Epub 2021 Sep 17. Mol Psychiatry. 2021. PMID: 34535765 Free PMC article.
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.
Rogers EJ, Jada R, Schragenheim-Rozales K, Sah M, Cortes M, Florence M, Levy NS, Moss R, Walikonis RS, Palty R, Shalgi R, Lichtman D, Kavushansky A, Gerges NZ, Kahn I, Umanah GKE, Levy AP. Rogers EJ, et al. Among authors: jada r. Front Mol Neurosci. 2019 Feb 20;12:43. doi: 10.3389/fnmol.2019.00043. eCollection 2019. Front Mol Neurosci. 2019. PMID: 30842726 Free PMC article.
IQSEC2-Associated Intellectual Disability and Autism.
Levy NS, Umanah GKE, Rogers EJ, Jada R, Lache O, Levy AP. Levy NS, et al. Among authors: jada r. 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.
Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy.
Kane O, McCoy A, Jada R, Borisov V, Zag L, Zag A, Schragenheim-Rozales K, Shalgi R, Levy NS, Levy AP, Marsh ED. Kane O, et al. Among authors: jada r. Epilepsy Res. 2022 May;182:106907. doi: 10.1016/j.eplepsyres.2022.106907. Epub 2022 Mar 15. Epilepsy Res. 2022. PMID: 35344748