Academic Journal
Developmental epileptic encephalopathy in DLG4‐related synaptopathy
| Τίτλος: | Developmental epileptic encephalopathy in DLG4‐related synaptopathy |
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| Συγγραφείς: | Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, de Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido, De Wachter, Matthias, Koudijs, Suzanna V, Van Esch, Hilde |
| Συνεισφορές: | Rheims, Sylvain, Copenhagen University Hospital, University of Southern Denmark (SDU), Université de Lille, Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), ASST Spedali Civili of Brescia, Università degli Studi di Brescia = University of Brescia (UniBs), Warszawski Uniwersytet Medyczny Polska = Medical University of Warsaw Poland = Université de Médecine de Varsovie Pologne, Hospital Ruber Internacional Madrid, Spain (HRI), Vall d'Hebron University Hospital Barcelona, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Functional Neurology and Epileptology, Hospices Civils de Lyon and University of Lyon, Lyon, France |
| Πηγή: | Epilepsia r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol Institut de Recerca Germans Trias i Pujol (IGTP) ABACUS. Repositorio de Producción Científica Universidad Europea (UEM) Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S V, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D, Szczaluba, K, Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2023, 'Developmental epileptic encephalopathy in DLG4-related synaptopathy', Epilepsia. https://doi.org/10.1111/epi.17876 Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S M, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D, Szczaluba, K, Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2024, ' Developmental epileptic encephalopathy in DLG4-related synaptopathy ', Epilepsia, vol. 65, no. 4, pp. 1029-1045 . https://doi.org/10.1111/epi.17876 |
| Στοιχεία εκδότη: | Wiley, 2024. |
| Έτος έκδοσης: | 2024 |
| Θεματικοί όροι: | Epilepsy/diagnostic imaging, Electroencephalography/methods, MESH: Brain Diseases, Disks Large Homolog 4 Protein/genetics, Brain Diseases/genetics, Encefalopatía hipertensiva, DEE‐SWAS, ESES, PSD‐95, SHINE syndrome, epilepsy, Ciencias médicas, 2. Zero hunger, Brain Diseases, Paciente, Generalized/complications, Electroencephalography, MESH: Seizures, 3. Good health, MESH: Disks Large Homolog 4 Protein, MESH: Epilepsy, Muscle Hypotonia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Epilepsy, Generalized, Life Sciences & Biomedicine, Disks Large Homolog 4 Protein, DEE-SWAS, Clinical Neurology, Seizures/complications, CLASSIFICATION, MESH: Intellectual Disability, Epilepsia, Seizures, Intellectual Disability, MESH: Electroencephalography, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], PSD-95, Retrospective Studies, MESH: Humans, Science & Technology, Neurology & Neurosurgery, Epilepsy, MESH: Muscle Hypotonia, Generalized, MUTATIONS, 3202 Clinical sciences, MESH: Retrospective Studies, 1103 Clinical Sciences, SLEEP, Intellectual Disability/genetics, 3209 Neurosciences, Human medicine, Neurosciences & Neurology, 1109 Neurosciences |
| Περιγραφή: | ObjectiveThe postsynaptic density protein of excitatory neurons PSD‐95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4‐related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4‐related synaptopathy.MethodsWe included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video‐polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician.ResultsA large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow‐wave sleep (ESES)/developmental epileptic encephalopathy with spike–wave activation during sleep (DEE‐SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE‐SWAS, as well as some who did not. We could not identify a clear genotype–phenotype relationship even between individuals with the same DLG4 variants.SignificanceOur study shows that a subgroup of individuals with DLG4‐related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE‐SWAS. Our study confirms DEE as part of the DLG4‐related phenotypic spectrum. Occurrence of ESES/DEE‐SWAS in DLG4‐related synaptopathy requires proper investigation with sleep EEG. |
| Τύπος εγγράφου: | Article Other literature type |
| Περιγραφή αρχείου: | application/pdf |
| Γλώσσα: | English |
| ISSN: | 1528-1167 0013-9580 |
| DOI: | 10.1111/epi.17876 |
| Σύνδεσμος πρόσβασης: | https://pubmed.ncbi.nlm.nih.gov/38135915 https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14930 http://hdl.handle.net/11268/12765 https://research.vumc.nl/en/publications/266a6653-07b0-4b46-99e5-8ea5c9c0ef88 https://pure.amsterdamumc.nl/en/publications/c5ac2a19-8aee-49db-945c-7d268b11a061 https://doi.org/10.1111/epi.17876 https://hdl.handle.net/10067/2048890151162165141 https://curis.ku.dk/ws/files/392920172/IKM_Epilepsia_2023_Kassabian_Developmental_epileptic_encephalopathy_in_DLG4_related_synaptopathy.pdf https://hdl.handle.net/11268/12765 https://portal.findresearcher.sdu.dk/da/publications/575a2337-fa8f-46c1-8742-3d0229174053 https://doi.org/10.1111/epi.17876 https://univ-lyon1.hal.science/hal-04954717v1 https://doi.org/10.1111/epi.17876 |
| Rights: | Wiley Online Library User Agreement taverne |
| Αριθμός Καταχώρησης: | edsair.doi.dedup.....339341663aee32b9a5a82f2f160b079c |
| Βάση Δεδομένων: | OpenAIRE |
| ISSN: | 15281167 00139580 |
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| DOI: | 10.1111/epi.17876 |