Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study
This study provides a detailed characterization of generalized epilepsy in individuals with 22q11.2DS and highlights specific associated comorbidities. The higher prevalence of family history of epilepsy among cases suggests that genetic factors beyond the 22q11.2 deletion influence the development of the epilepsy phenotype, providing new insights into the genetic underpinnings of phenotypic variability in this syndrome.
Authors
- Boris Chaumette (ORCID: https://orcid.org/0000-0002-1313-2788)
- Francesco Fortunato (ORCID: https://orcid.org/0000-0001-8395-7809)
- Fabio Di Fabio (ORCID: https://orcid.org/0000-0003-3285-5401)
- Thomas Dorn
- Agnese Giovannetti (ORCID: https://orcid.org/0000-0001-5207-7243)
- Flaminia Pugnaloni (ORCID: https://orcid.org/0000-0001-9509-6778)
- Federica Pulvirenti (ORCID: https://orcid.org/0000-0002-3466-9496)
- Emanuele Cerulli Irelli (ORCID: https://orcid.org/0000-0003-3906-555X)
- Antonio Gambardella (ORCID: https://orcid.org/0000-0001-7384-3074)
- Viviana Caputo (ORCID: https://orcid.org/0000-0001-6753-1234)
- Antonella Riva (ORCID: https://orcid.org/0000-0001-9152-5571)
- Georgia Ramantani (ORCID: https://orcid.org/0000-0002-7931-2327)
- Martine Gavaret (ORCID: https://orcid.org/0000-0002-5790-2254)
- Carolina Putotto (ORCID: https://orcid.org/0000-0003-3778-3769)
- Biagio Orlando
- Adolfo Mazzeo (ORCID: https://orcid.org/0000-0002-7014-6617)
- Gerhard Kluger (ORCID: https://orcid.org/0000-0003-1234-994X)
- Tommaso Accinni (ORCID: https://orcid.org/0000-0002-3092-6475)
- Cyril Mignot (ORCID: https://orcid.org/0000-0002-3462-3463)
- Francesca Felicia Operto (ORCID: https://orcid.org/0000-0002-2444-8761)
- Anton Iftimovici (ORCID: https://orcid.org/0000-0003-4927-2798)
- Cécile Louveau
- Carlo Di Bonaventura (ORCID: https://orcid.org/0000-0003-1890-5409)
- Pasquale Striano (ORCID: https://orcid.org/0000-0002-6065-1476)
- Martina Fanella (ORCID: https://orcid.org/0000-0002-3326-7030)
- Johannes R. Lemke
- Edoardo Ferlazzo
Institutions
- Inserm (FR)
- University of Zurich (CH)
- Université Paris Cité (FR)
- Paracelsus Medical University (AT)
- Casa Sollievo della Sofferenza (IT)
- Policlinico Umberto I (IT)
- Istituto Giannina Gaslini (IT)
- Istituto Neurologico Mediterraneo (IT)
- Magna Graecia University (IT)
- Sorbonne Université (FR)
- Schön Klinik Vogtareuth (DE)
- Bambino Gesù Children's Hospital (IT)
- University Children's Hospital Zurich (CH)
- Institut de Psychiatrie et Neurosciences de Paris (FR)
- FHU Neurovasc (FR)
- McGill University (CA)
- University of Genoa (IT)
- Sapienza University of Rome (IT)
- Leipzig University (DE)
Publication Details
- Journal
- Epilepsia
- Published
- 2024-12-24
- DOI
- https://doi.org/10.1111/epi.18220
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00