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
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
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
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