Associated Papers
IQSEC2/BRAG1 may modulate postsynaptic density assembly through Ca2+-induced phase separation.
Bai G et al.
The Journal of Cell Biology, 2025
Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions.
Bai G et al.
The Journal of Cell Biology, 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
IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes.
Liu X et al.
Frontiers in Molecular Neuroscience, 2022
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C et al.
Diagnostics (basel, Switzerland), 2021
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D et al.
Clinical Genetics, 2021
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-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
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
Shoubridge C et al.
Human Mutation, 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
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
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
Madrigal I et al.
European Journal of Human Genetics : Ejhg, 2016
IQSEC2 and X-linked syndromal intellectual disability.
Alexander-Bloch AF et al.
Psychiatric Genetics, 2016
Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.
Brown JC et al.
Nature Communications, 2016
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
Kalscheuer VM et al.
Frontiers in Molecular Neuroscience, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
Gandomi SK et al.
Journal of Genetic Counseling, 2014
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Tran Mau-Them F et al.
European Journal of Human Genetics : Ejhg, 2014
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.
Shoubridge C et al.
Small Gtpases, 2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
Shoubridge C et al.
Nature Genetics, 2010
Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.
Shokhen M et al.
Journal of Biomolecular Structure & Dynamics, 0