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Page 1
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Bassani S, et al. Among authors: operto f. Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y. Genome Med. 2024. PMID: 38811945 Free PMC article.
Second-Line Medications for Women Aged 10 to 50 Years With Idiopathic Generalized Epilepsy.
Cerulli Irelli E, Cocchi E, Gesche J, Peña-Ceballos J, Caraballo RH, Lattanzi S, Strigaro G, Morano A, Moloney PB, Ferlazzo E, Pascarella A, Mazzeo A, D'Aniello A, Pizzanelli C, Milano C, Giuliano L, Viola V, Mostacci B, Fortunato F, Pulitano P, Burani M, Meletti S, Pignatta P, Perulli M, Battaglia D, Rosati E, Delanty N, Di Gennaro G, Gambardella A, Labate A, Operto FF, Giallonardo AT, Beier CP, Di Bonaventura C; Women with Epilepsy Treatment Options and Research (WETOR) study group. Cerulli Irelli E, et al. Among authors: operto ff. JAMA Netw Open. 2025 Mar 3;8(3):e250354. doi: 10.1001/jamanetworkopen.2025.0354. JAMA Netw Open. 2025. PMID: 40063025 Free PMC article.
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Rossi A, Lin SXN, Absalom NL, Ortiz-De la Rosa S, Liao VWY, Mohammadi NA, Viswanathan S, Stödberg T, Danieli A, Bonanni P, Aeby A, Orsini A, Bonuccelli A, Rüegger A, Giraldez BG, Isidor B, Stüve B, Marini C, Cesaroni E, Fenger CD, Philippe C, Meunier C, Lederer D, Moortgat S, Spinelli E, Fallica E, Zeiner F, Bauman M, Licchetta L, Bisulli F, Operto FF, Benkel-Herrenbrueck I, Gorman KM, Johannesen KM, Platzer K, Schnabel F, Lagae L, Laufs M, Zordania R, Malone S, Messana T, Werckx W, Jonsson C, Afawi Z, Foiadelli T, Halleb Y, Stoeva R, Jennesson-Lyver M, Lesca G, Guerrini R, Berkovic SF, Scheffer IE, Chebib M, Gardella E, Møller RS, Rubboli G, Ahring PK. Rossi A, et al. Among authors: operto ff. Neurology. 2025 Jul 22;105(2):e213644. doi: 10.1212/WNL.0000000000213644. Epub 2025 Jun 26. Neurology. 2025. PMID: 40570274 Free PMC article.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491959
The effect of executive function on health related quality of life in children with self-limited epilepsy with centrotemporal spikes.
Zanaboni MP, Pasca L, Bergamoni S, Bova SM, Celario M, Freri E, Grumi S, Filippini M, Leonardi V, Micheletti S, Operto FF, Papa A, Pastorino GMG, Peruzzi C, Pruna D, Ragona F, Raviglione F, Totaro M, Varesio C, De Giorgis V; Epilepsit study group. Zanaboni MP, et al. Among authors: operto ff. Epilepsy Behav. 2024 Mar;152:109607. doi: 10.1016/j.yebeh.2023.109607. Epub 2024 Jan 25. Epilepsy Behav. 2024. PMID: 38277852
Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?
Vignoli A, Prato G, Alfei E, Bagnasco I, Danieli A, Celario M, Favaro J, Matricardi S, Operto FF, Orsini A, Bernasconi DP, Pietrafusa N, Ricci E, Manfredini L, Balletto G, Bonanni P, Canevini MP, De Giorgis V, Nobili L, Sartori S, Savini MN, Viganò I, Specchio N. Vignoli A, et al. Among authors: operto ff. Epilepsia Open. 2025 Jun 21. doi: 10.1002/epi4.70078. Online ahead of print. Epilepsia Open. 2025. PMID: 40543048 Free article.
Effectiveness of perampanel as only concomitant antiseizure medication for highly active epilepsy: insight from a real-world, multicenter retrospective study.
Pascarella A, Pasquale M, Abelardo D, Gasparini S, Marsico O, Cutellè R, Cianci V, Iudice A, Bisulli F, Bonanni P, Caggia E, D'Aniello A, Di Bonaventura C, DiFrancesco JC, Domina E, Dono F, Gambardella A, Marini C, Marrelli A, Matricardi S, Morano A, Paladin F, Renna R, Piccioli M, Striano P, Ascoli M, La Neve A, Le Piane E, Orsini A, Torino C, Beretta S, Aguglia U, Ferlazzo E; PEROC Study Group. Pascarella A, et al. J Neurol. 2025 Jun 7;272(7):449. doi: 10.1007/s00415-025-13184-z. J Neurol. 2025. PMID: 40483297
Real-world use of adjunctive perampanel for focal-onset seizures in Italy: A mirroring clinical practice study of perampanel in adults and adolescents (AMPA).
D'Aniello A, Giallonardo AT, Tinuper P, Mecarelli O, Aguglia U, Assenza G, Gambardella A, Canevini MP, Scifo R, Meletti S, De Giorgis V, Bonanni E, Michelucci R, Cerminara C, Romeo A, Vigevano F, Operto FF, Tramacere L, Di Gennaro G; Alfonso Iudice on behalf of the AMPA Study group; Ngo LY, Patten A, Gentile AL, Pecori A, Goldman S. D'Aniello A, et al. Among authors: operto ff. Epilepsia Open. 2025 Jun 4. doi: 10.1002/epi4.70068. Online ahead of print. Epilepsia Open. 2025. PMID: 40468531 Free article.
Adult Neurogenesis Is Regulated by the Endocannabinoid and Kisspeptin Systems.
Marino M, Di Pietro P, D'Auria R, Lombardi M, Pastorino GMG, Troisi J, Operto FF, Carrizzo A, Vecchione C, Viggiano A, Meccariello R, Santoro A. Marino M, et al. Among authors: operto ff. Int J Mol Sci. 2025 Apr 23;26(9):3977. doi: 10.3390/ijms26093977. Int J Mol Sci. 2025. PMID: 40362219 Free PMC article.
Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study.
Cerulli Irelli E, Mazzeo A, Caraballo RH, Perulli M, Moloney PB, Peña-Ceballos J, Rubino M, Mieszczanek KM, Santangelo A, Licchetta L, De Giorgis V, Reyes Valenzuela G, Casellato S, Cesaroni E, Operto FF, Domínguez-Carral J, Ramírez-Camacho A, Ferretti A, Santangelo G, Aledo-Serrano A, Rüegger A, Mancardi MM, Prato G, Riva A, Bergonzini L, Cordelli DM, Bonanni P, Bisulli F, Di Gennaro G, Matricardi S, Striano P, Delanty N, Marini C, Battaglia D, Di Bonaventura C, Ramantani G, Gardella E; GENE‐CBD Study Group; Orsini A, Coppola A. Cerulli Irelli E, et al. Among authors: operto ff. Epilepsia. 2025 Mar 24. doi: 10.1111/epi.18378. Online ahead of print. Epilepsia. 2025. PMID: 40126049
146 results