Associated Papers
IQSEC2/BRAG1 may modulate postsynaptic density assembly through Ca2+-induced phase separation.
Bai G et al.
The Journal of Cell Biology, 2025
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
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
BRAG1/IQSEC2 as a regulator of small GTPase-dependent trafficking.
Petersen A et al.
Small Gtpases, 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
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
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