Associated Papers
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
Molecular Insights into IQSEC2 Disease.
Levy NS et al.
International Journal of Molecular Sciences, 2023
36902414 (PubMed )
Supplement: ijms-24-04984-s001.zip › Table_S2_non_missense.pdf
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
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
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
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
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