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
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
30206421 (PubMed )
Supplement: 41436_2018_268_MOESM4_ESM.xlsx › Table_S2
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
Next-generation sequencing in X-linked intellectual disability.
Tzschach A et al.
European Journal of Human Genetics : Ejhg, 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
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