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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: guerrini r. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP Jr, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, Harding IH. Kerestes R, et al. Among authors: guerrini r. Epilepsia. 2024 Apr;65(4):1072-1091. doi: 10.1111/epi.17881. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38411286 Free article.
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
Severe A(H1N1)pdm09 influenza acute encephalopathy outbreak in children in Tuscany, Italy, December 2023 to January 2024.
Bartolini L, Ricci S, Azzari C, Moriondo M, Nieddu F, L'Erario M, Ricci Z, Simonini G, Mortilla M, Indolfi G, Montagnani C, Chiappini E, Galli L, Guerrini R. Bartolini L, et al. Among authors: guerrini r. Euro Surveill. 2024 Apr;29(17):2400199. doi: 10.2807/1560-7917.ES.2024.29.17.2400199. Euro Surveill. 2024. PMID: 38666399 Free PMC article.
Epileptic encephalopathies and progressive neurodegeneration.
Guerrini R, Conti V. Guerrini R, et al. Rev Neurol (Paris). 2024 Apr 5:S0035-3787(24)00481-8. doi: 10.1016/j.neurol.2024.03.004. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38582661 Free article. Review.
1,080 results