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306 results

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Page 1
The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives.
Specchio N, Trivisano M, Aronica E, Balestrini S, Arzimanoglou A, Colasante G, Cross JH, Jozwiak S, Wilmshurst JM, Vigevano F, Auvin S, Nabbout R, Curatolo P. Specchio N, et al. Among authors: auvin s. Lancet Child Adolesc Health. 2024 Nov;8(11):821-834. doi: 10.1016/S2352-4642(24)00196-2. Lancet Child Adolesc Health. 2024. PMID: 39419567 Review.
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators. de Vries PJ, et al. Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8. Orphanet J Rare Dis. 2018. PMID: 30201051 Free PMC article.
Corrigendum to "Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy" [Eur. J. Paediatr. Neurol. 47 (2023) 25-34].
Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, Curatolo P. Specchio N, et al. Among authors: auvin s. Eur J Paediatr Neurol. 2024 Jul;51:149-150. doi: 10.1016/j.ejpn.2023.12.004. Epub 2024 May 18. Eur J Paediatr Neurol. 2024. PMID: 38762440 No abstract available.
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA, Ahring PK, Yu Liao VW, Chua HC, Ortiz de la Rosa S, Johannesen KM, Michaeli-Yossef Y, Vincent-Devulder A, Meridda C, Bruel AL, Rossi A, Patel C, Klepper J, Bonanni P, Minghetti S, Trivisano M, Specchio N, Amor D, Auvin S, Baer S, Meyer P, Milh M, Salpietro V, Maroofian R, Lemke JR, Weckhuysen S, Christophersen P, Rubboli G, Chebib M, Jensen AA, Absalom NL, Møller RS. Mohammadi NA, et al. Among authors: auvin s. EBioMedicine. 2024 Aug;106:105236. doi: 10.1016/j.ebiom.2024.105236. Epub 2024 Jul 11. EBioMedicine. 2024. PMID: 38996765 Free PMC article.
WONOEP appraisal: Targeted therapy development for early onset epilepsies.
Casillas-Espinosa PM, Wong JC, Grabon W, Gonzalez-Ramos A, Mantegazza M, Yilmaz NC, Patel M, Staley K, Sankar R, O'Brien TJ, Akman Ö, Balagura G, Numis AL, Noebels JL, Baulac S, Auvin S, Henshall DC, Galanopoulou AS. Casillas-Espinosa PM, et al. Among authors: auvin s. Epilepsia. 2024 Nov 19. doi: 10.1111/epi.18187. Online ahead of print. Epilepsia. 2024. PMID: 39560633
Vitamin D prophylaxis in persons with epilepsy?
Sourbron J, Auvin S, Cabral-Lim L, Devlin A, Dluglos D, Hosny H, Marson T, Meador KJ, Patel AA, Penell PB, Riney K, Trinka E, Wiebe S, Lagae L. Sourbron J, et al. Among authors: auvin s. Epilepsia. 2024 Sep;65(9):2567-2579. doi: 10.1111/epi.18046. Epub 2024 Jun 22. Epilepsia. 2024. PMID: 39494692 Review.
306 results