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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. Muona M, et al. Among authors: canafoglia l. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. Nat Genet. 2015. PMID: 25401298 Free PMC article.
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
Canafoglia L, Bugiani M, Uziel G, Dalla Bernardina B, Ciano C, Scaioli V, Avanzini G, Franceschetti S, Panzica F. Canafoglia L, et al. Mov Disord. 2006 Sep;21(9):1453-6. doi: 10.1002/mds.20984. Mov Disord. 2006. PMID: 16755579
ICTAL EEG fast activity in West syndrome: from onset to outcome.
Panzica F, Binelli S, Canafoglia L, Casazza M, Freri E, Granata T, Avanzini G, Franceschetti S. Panzica F, et al. Among authors: canafoglia l. Epilepsia. 2007 Nov;48(11):2101-10. doi: 10.1111/j.1528-1167.2007.01264.x. Epub 2007 Sep 6. Epilepsia. 2007. PMID: 17825076 Free article.
The neuropsychological pattern of Unverricht-Lundborg disease.
Giovagnoli AR, Canafoglia L, Reati F, Raviglione F, Franceschetti S. Giovagnoli AR, et al. Among authors: canafoglia l. Epilepsy Res. 2009 Apr;84(2-3):217-23. doi: 10.1016/j.eplepsyres.2009.02.004. Epub 2009 Mar 3. Epilepsy Res. 2009. PMID: 19261441
A CDKL5 mutated child with precocious puberty.
Saletti V, Canafoglia L, Cambiaso P, Russo S, Marchi M, Riva D. Saletti V, et al. Among authors: canafoglia l. Am J Med Genet A. 2009 May;149A(5):1046-51. doi: 10.1002/ajmg.a.32806. Am J Med Genet A. 2009. PMID: 19396824
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. Dibbens LM, et al. Among authors: canafoglia l. Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765. Ann Neurol. 2009. PMID: 19847901
163 results