Associated Papers
Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients.
Ren Y et al.
Pharmacogenomics and Personalized Medicine, 2024
Molecular Insights into IQSEC2 Disease.
Levy NS et al.
International Journal of Molecular Sciences, 2023
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
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
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
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
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