Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

Autor: Irenaeus F.M. de Coo, Sarah Jesse, Thuy-Linh Le, Carlo Sala, Thomas Bourgeron
Přispěvatelé: Maastricht University [Maastricht], Deutsches Zentrum für Neurodegenerative Erkrankungen [Ulm] (DZNE), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Istituto di Neuroscienze - Institute of Neuroscience [Milan, Italy] (CNR), Università degli Studi di Milano = University of Milan (UNIMI)-Consiglio Nazionale delle Ricerche [Milano] (CNR), This project has been supported by European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA)., ERN-ITHACA is partly co-funded by the Health Programme of the European Union. This work was funded by Institut Pasteur, the Bettencourt-Schueller Foundation, Université Paris Cité, the Eranet-Neuron (ALTRUISM), the GenMed Labex, and the Inception program (Investissement d’Avenir grant ANR-16-CONV-0005). This project received funding from the European Union's Horizon 2020 research and innovation programmes under CANDY grant agreement N° 847818 and under the EJP RD COFUND-EJP N° 825575.The views expressed here are the responsibility of the author(s) only. The EU Commission takes no responsibility for any use made of the information set out., ANR-16-CONV-0005,INCEPTION,Institut Convergences pour l'étude de l'Emergence des Pathologies au Travers des Individus et des populatiONs(2016), European Project: 825575,COFUND-EJP
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (6), pp.104746. ⟨10.1016/j.ejmg.2023.104746⟩
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2023.104746⟩
Popis: International audience; Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities like seizures. The epilepsy manifests itself in a variety of seizure semiologies. Further diagnostics using electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) are important in conjunction with the clinical picture of the seizures to decide whether anticonvulsant therapy is necessary. As part of the development of European consensus guidelines we focussed on the prevalence and semiology of epileptic seizures in PMS associated with a pathogenic variant in the SHANK3 gene or the 22q13 deletion involving SHANK3, in order to then be able to make recommendations regarding diagnosis and therapy.
Databáze: OpenAIRE
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