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Page 1
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Gozzelino L, Kochlamazashvili G, Baldassari S, Mackintosh AI, Licchetta L, Iovino E, Liu YC, Bennett CA, Bennett MF, Damiano JA, Zsurka G, Marconi C, Giangregorio T, Magini P, Kuijpers M, Maritzen T, Norata GD, Baulac S, Canafoglia L, Seri M, Tinuper P, Scheffer IE, Bahlo M, Berkovic SF, Hildebrand MS, Kunz WS, Giordano L, Bisulli F, Martini M, Haucke V, Hirsch E, Pippucci T. Gozzelino L, et al. Among authors: giordano l. Brain. 2022 Jul 29;145(7):2313-2331. doi: 10.1093/brain/awac082. Brain. 2022. PMID: 35786744 Free PMC article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: giordano l. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug-refractory epilepsy.
Canevini MP, De Sarro G, Galimberti CA, Gatti G, Licchetta L, Malerba A, Muscas G, La Neve A, Striano P, Perucca E; SOPHIE Study Group. Canevini MP, et al. Epilepsia. 2010 May;51(5):797-804. doi: 10.1111/j.1528-1167.2010.02520.x. Epub 2010 Apr 20. Epilepsia. 2010. PMID: 20545754 Free article.
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group. Weckhuysen S, et al. Among authors: giordano l. Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9. Neurology. 2013. PMID: 24107868 Free PMC article.
Long-term outcome of epilepsy in patients with Prader-Willi syndrome.
Verrotti A, Cusmai R, Laino D, Carotenuto M, Esposito M, Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belcastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A. Verrotti A, et al. Among authors: giordano l. J Neurol. 2015 Jan;262(1):116-23. doi: 10.1007/s00415-014-7542-1. Epub 2014 Oct 18. J Neurol. 2015. PMID: 25326049
Epilepsy in ring chromosome 20 syndrome.
Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP. Vignoli A, et al. Among authors: giordano l. Epilepsy Res. 2016 Dec;128:83-93. doi: 10.1016/j.eplepsyres.2016.10.004. Epub 2016 Oct 24. Epilepsy Res. 2016. PMID: 27816898
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Pippucci T, Licchetta L, Baldassari S, Marconi C, De Luise M, Myers C, Nardi E, Provini F, Cameli C, Minardi R, Bacchelli E, Giordano L, Crichiutti G, d'Orsi G, Seri M, Gasparre G, Mefford HC, Tinuper P, Bisulli F; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission. Pippucci T, et al. Among authors: giordano l. Ann Clin Transl Neurol. 2019 Feb 25;6(3):475-485. doi: 10.1002/acn3.722. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911571 Free PMC article.
Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients.
Licchetta L, Pippucci T, Baldassari S, Minardi R, Provini F, Mostacci B, Plazzi G, Tinuper P, Bisulli F; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Study Group on SHE. Licchetta L, et al. Seizure. 2020 Jan;74:60-64. doi: 10.1016/j.seizure.2019.11.009. Epub 2019 Nov 23. Seizure. 2020. PMID: 31835056 Free article.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: giordano l. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
965 results