Associated Papers
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
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D et al.
Clinical Genetics, 2021
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
Jackson MR et al.
Life Science Alliance, 2019
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Radley JA et al.
Clinical Genetics, 2019
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