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Article

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Journal of medical genetics - 31 Dec 2024

Mei Davide, Balestrini Simona, Parrini Elena, Gambardella Antonio, Annesi Grazia, De Giorgis Valentina, Gana Simone, Bassi Maria Teresa, Zucca Claudio, Elia Maurizio, Vetri Luigi, Castellotti Barbara, Ragona Francesca, Mastrangelo Mario, Pisani Francesco, d'Orsi Giuseppe, Carella Massimo, Pruna Dario, Giglio Sabrina, Marini Carla, Cesaroni Elisabetta, Riva Antonella, Scala Marcello, Licchetta Laura, Minardi Raffaella, Contaldo Ilaria, Gambardella Maria Luigia, Cossu Alberto, Proietti Jacopo, Cantalupo Gaetano, Trivisano Marina, De Dominicis Angela, Specchio Nicola, Tassi Laura, Guerrini Renzo

Abstract excerpt

BACKGROUND: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period. METHODS: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39613335
DOI: 10.1136/jmg-2024-110328
PMCID: PMC11877070

Genes

KCNQ2
SCN1A
SCN2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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