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Page 1
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.
Amin S, Møller RS, Aledo-Serrano A, Arzimanoglou A, Bager P, Jóźwiak S, Kluger GJ, López-Cabeza S, Nabbout R, Partridge CA, Schubert-Bast S, Specchio N, Kälviäinen R. Amin S, et al. Among authors: aledo serrano a. Epilepsia Open. 2024 Mar 7. doi: 10.1002/epi4.12914. Online ahead of print. Epilepsia Open. 2024. PMID: 38450883 Free article. Review.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, 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 MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: aledo serrano a. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
Adult Phenotype of SYNGAP1-DEE.
Rong M, Benke T, Zulfiqar Ali Q, Aledo-Serrano Á, Bayat A, Rossi A, Devinsky O, Qaiser F, Ali AS, Fasano A, Bassett AS, Andrade DM. Rong M, et al. Among authors: aledo serrano a. Neurol Genet. 2023 Nov 17;9(6):e200105. doi: 10.1212/NXG.0000000000200105. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38045990 Free PMC article.
Quality of life, socioeconomic and psychological concerns in parents of children with tuberous sclerosis complex, STXBP1 and SYNGAP1 encephalopathies: a mixed method study.
Salcedo-Perez-Juana M, Palacios-Ceña D, San-Martín-Gómez A, Aledo-Serrano Á, Florencio LL. Salcedo-Perez-Juana M, et al. Among authors: aledo serrano a. Front Pediatr. 2023 Nov 9;11:1285377. doi: 10.3389/fped.2023.1285377. eCollection 2023. Front Pediatr. 2023. PMID: 38027293 Free PMC article.
Efficacy and tolerability of add-on stiripentol in real-world clinical practice: An observational study in Dravet syndrome and non-Dravet developmental and epileptic encephalopathies.
Gil-Nagel A, Aledo-Serrano A, Beltrán-Corbellini Á, Martínez-Vicente L, Jimenez-Huete A, Toledano-Delgado R, Gacía-Morales I, Valls-Carbó A. Gil-Nagel A, et al. Among authors: aledo serrano a. Epilepsia Open. 2024 Feb;9(1):164-175. doi: 10.1002/epi4.12847. Epub 2023 Nov 8. Epilepsia Open. 2024. PMID: 37867433 Free PMC article.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: aledo serrano a. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
Erratum to ' Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission' [Seizure Volume 106, March 2023, Pages 68-75].
Aledo-Serrano A, Battaglia G, Blenkinsop S, Delanty N, Elbendary HM, Eyal S, Guekht A, Gulcebi MI, Henshall DC, Hildebrand MS, Macrohon B, Madaan P, Mifsud J, Mills JD, Neill KH, Romagnolo A, Vezzani A, Sisodiya SM. Aledo-Serrano A, et al. Seizure. 2023 Oct;111:164. doi: 10.1016/j.seizure.2023.08.013. Epub 2023 Aug 26. Seizure. 2023. PMID: 37639957 No abstract available.
Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Kassabian B, Fenger CD, Willems M, Aledo-Serrano A, Linnankivi T, McDonnell PP, Lusk L, Jepsen BS, Bayat M, Kattentidt-Mouravieva AA, Vidal AA, Valero-Lopez G, Alarcon-Martinez H, Goodspeed K, van Slegtenhorst M, Barakat TS, Møller RS, Johannesen KM, Rubboli G. Kassabian B, et al. Among authors: aledo serrano a. Front Neurosci. 2023 Aug 11;17:1270299. doi: 10.3389/fnins.2023.1270299. eCollection 2023. Front Neurosci. 2023. PMID: 37638311 Free PMC article.
69 results