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Author

Antonella Boni

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Open access Sep 2026

Living with developmental and/or epileptic encephalopathies: exploring health-related quality of life in children, youth, and their families

Attention to non-seizure outcomes in Developmental and/or Epileptic Encephalopathies (DEs, EEs, DEEs) is growing, and there is increasing interest in understanding key determinants of health-related quality of life (HRQoL) in this population. This study investigates personal and family HRQoL in a real-world pedia...

L. Bergonzini, F. Sperandeo, S. Lelli et al. · 0 citations
Aug 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and be...

Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput et al. · 0 citations

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