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Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.
Tsai MH, Ke HC, Lin WC, Nian FS, Huang CW, Cheng HY, Hsu CS, Granata T, Chang CH, Castellotti B, Lin SY, Doniselli FM, Lu CJ, Franceschetti S, Ragona F, Hou PS, Canafoglia L, Tung CY, Lee MH, Wang WJ, Tsai JW. Tsai MH, et al. Among authors: ragona f. Acta Neuropathol. 2024 Jan 9;147(1):13. doi: 10.1007/s00401-023-02665-y. Acta Neuropathol. 2024. PMID: 38194050 Free PMC article.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
An Italian consensus on the management of Lennox-Gastaut syndrome.
Riva A, Coppola A, Bonaventura CD, Elia M, Ferlazzo E, Gobbi G, Marini C, Meletti S, Romeo A, Santoro K, Verrotti A, Capovilla G, Striano P; Italian LGS Delphi Group. Riva A, et al. Seizure. 2022 Oct;101:134-140. doi: 10.1016/j.seizure.2022.07.004. Epub 2022 Jul 15. Seizure. 2022. PMID: 35981474 Free article.
Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication.
Verrotti A, Laino D, Rinaldi VE, Suppiej A, Giordano L, Toldo I, Margari L, Parisi P, Rizzo R, Matricardi S, Cusmai R, Grosso S, Gaggero R, Zamponi N, Pavone P, Capovilla G, Rauchenzauner M, Cerminara C, Di Gennaro G, Esposito M, Striano P, Savasta S, Coppola G, Siliquini S, Operto F, Belcastro V, Ragona F, Marseglia GL, Spalice A. Verrotti A, et al. Among authors: ragona f. Eur J Neurol. 2016 Feb;23(2):241-6. doi: 10.1111/ene.12840. Epub 2015 Oct 25. Eur J Neurol. 2016. PMID: 26498733
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D. Diodato D, et al. Among authors: ragona f. Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24. Hum Mutat. 2014. PMID: 24827421 Free PMC article.
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