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Marcello Scala

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2 papers indexed here

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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 behavior.

Marina Boon, Meghan R. Mulligan, Jolijn J A Verseput et al. · 0 citations
Review Aug 2026

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

This review synthesizes contemporary insights into the genetic and molecular pathophysiology of seizures and epilepsy, with emphasis on mechanisms that destabilize excitation–inhibition balance, promote epileptogenesis, and drive pharmacoresistance and supports more refined approaches to epilepsy classification and future precision medicine strategies.

Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala et al. · 0 citations