Associated Papers
Molecular Insights into IQSEC2 Disease.
Levy NS et al.
International Journal of Molecular Sciences, 2023
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
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
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