Associated Papers
Extracellular vesicles from stem cells rescue cellular phenotypes and behavioral deficits in SHANK3-associated ASD neuronal and mouse models.
Choudhary A et al.
Cell Death & Disease, 2026
IQSEC2/BRAG1 may modulate postsynaptic density assembly through Ca2+-induced phase separation.
Bai G et al.
The Journal of Cell Biology, 2025
Rescue of Iqsec2 Knockout Mice with Human IQSEC2 Adeno-Associated Virus Mediated Gene Therapy.
Soundararajan D et al.
International Journal of Molecular Sciences, 2025
Structural and Functional Analysis of the Human IQSEC2 S1474Qfs*133 Mutation.
Israel Y et al.
Biomolecules, 2025
Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.
Muhtaseb AW et al.
Schizophrenia Research, 2024
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
Swanson MA et al.
Biorxiv : the Preprint Server for Biology, 2024
Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome.
Zhao X et al.
Epilepsy & Behavior : E&b, 2024
Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients.
Ren Y et al.
Pharmacogenomics and Personalized Medicine, 2024
Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions.
Bai G et al.
The Journal of Cell Biology, 2023
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.
Leoncini S et al.
Children (basel, Switzerland), 2023
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.
Hussein Y et al.
Translational Psychiatry, 2023
Molecular Insights into IQSEC2 Disease.
Levy NS et al.
International Journal of Molecular Sciences, 2023
Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction.
Jada R et al.
International Journal of Molecular Sciences, 2023
A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.
Qin Y et al.
Molecular Psychiatry, 2022
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 et al.
Epilepsy Research, 2022
The Potential Role of AMPA Receptor Trafficking in Autism and Other Neurodevelopmental Conditions.
Niescier RF et al.
Neuroscience, 2021
IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.
Brant B et al.
Molecular Psychiatry, 2021
Reduction in seizure burden in a child with a A350V IQSEC2 mutation using heat therapy with a Jacuzzi.
Levy AP et al.
Clinical Case Reports, 2021
Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation.
Jabarin R et al.
Translational Psychiatry, 2021
Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior.
Lichtman D et al.
Translational Psychiatry, 2021
Housing of A350V IQSEC2 pups at 37 °C ambient temperature prevents seizures and permits the development of social vocalizations in adulthood.
Jada R et al.
International Journal of Hyperthermia : the Official Journal of European Society for Hyperthermic Oncology, North American Hyperthermia Group, 2021
Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.
Sah M et al.
Neurobiology of Disease, 2020
A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family.
Choi MH et al.
Genetic Testing and Molecular Biomarkers, 2020
Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.
Accogli A et al.
Journal of Genetics, 2020
A case of intellectual disability reveals a novel mutation in IQSEC2 gene by whole exome sequencing.
Zou Q et al.
Psychiatric Genetics, 2019
IQSEC2-Associated Intellectual Disability and Autism.
Levy NS et al.
International Journal of Molecular Sciences, 2019
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.
Rogers EJ et al.
Frontiers in Molecular Neuroscience, 2019
Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation.
Zipper R et al.
Clinical Case Reports, 2017
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
Ewans LJ et al.
European Journal of Human Genetics : Ejhg, 2017
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A et al.
Epilepsia, 2016
Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.
Shokhen M et al.
Journal of Biomolecular Structure & Dynamics, 0