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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: filla a. 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.
A novel mutation in SACS gene in a family from southern Italy.
Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli FM, Perretti A, Santoro L, De Michele G, Filla A. Criscuolo C, et al. Among authors: filla a. Neurology. 2004 Jan 13;62(1):100-2. doi: 10.1212/wnl.62.1.100. Neurology. 2004. PMID: 14718706 Free article.
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A. Coppola G, et al. Among authors: filla a. J Neurol. 2005 Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742102
Complex phenotype in an Italian family with a novel mutation in SPG3A.
de Leva MF, Filla A, Criscuolo C, Tessa A, Pappatà S, Quarantelli M, Bilo L, Peluso S, Antenora A, Longo D, Santorelli FM, De Michele G. de Leva MF, et al. Among authors: filla a. J Neurol. 2010 Mar;257(3):328-31. doi: 10.1007/s00415-009-5311-3. Epub 2009 Sep 19. J Neurol. 2010. PMID: 19768483
PRICKLE1 progressive myoclonus epilepsy in Southern Italy.
Criscuolo C, de Leva MF, Sorrentino P, Piro R, Carbone R, Guacci A, De Michele G, Filla A. Criscuolo C, et al. Among authors: filla a. Mov Disord. 2010 Nov 15;25(15):2686-7. doi: 10.1002/mds.23350. Mov Disord. 2010. PMID: 20842693 No abstract available.
336 results