Lucio Giordano

10PUBLICATIONS
72CO-AUTHORS
Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Medical devicesNeurology and neuromuscular diseasesPerformance evaluation
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Publications (10)

|Jun 01, 2026
PUS7 Deficiency: Phenotypical Expansion of PUS7-Related Neurodevelopmental Disorders.

|Oct 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.

Simona Balestrini, Ilaria Galli, Maria Luisa Ricci

|Sep 08, 2025
UBA5-epileptic encephalopathy: new patient, a novel variant, and a review of epileptic phenotypes.

C Cinnirella, G Cinnirella, C Campanella

|Jul 08, 2024
Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.

Sara Brunetti, Alice Muda, Chiara Conti

|Jun 26, 2023
WISC-IV intellectual profiles in Italian children with self-limited epilepsy with centrotemporal spikes.

Martina Paola Zanaboni, Ludovica Pasca, Stefania Maria Bova

|Apr 17, 2023
A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.

Alice Muda, Laura Malerba, Lucio Giordano

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