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
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Shoubridge C et al.
Clinical Genetics, 2022
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
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Staněk D et al.
Orphanet Journal of Rare Diseases, 2018
Select a paper to view details