Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.
Leoncini S et al.
Children (basel, Switzerland), 2023
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
Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.
Accogli A et al.
Journal of Genetics, 2020
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-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
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich A et al.
Molecular Autism, 2019
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