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Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Courage C, et al. Among authors: gambardella a. Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013. Am J Hum Genet. 2021. PMID: 33798445 Free PMC article.
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, St Hilaire JM, Kwiecinski H, Andermann E, Pandolfo M. D'Agostino D, et al. Among authors: gambardella a. Neurology. 2004 Oct 26;63(8):1500-2. doi: 10.1212/01.wnl.0000142093.94998.1a. Neurology. 2004. PMID: 15505175
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A. Mantegazza M, et al. Among authors: gambardella a. Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):18177-82. doi: 10.1073/pnas.0506818102. Epub 2005 Dec 2. Proc Natl Acad Sci U S A. 2005. PMID: 16326807 Free PMC article.
Reflex periodic spasms induced by eating.
Labate A, Colosimo E, Gambardella A, Leggio U, Ambrosio R, Loi M, Quattrone A. Labate A, et al. Among authors: gambardella a. Brain Dev. 2006 Apr;28(3):170-4. doi: 10.1016/j.braindev.2005.06.005. Epub 2006 Jan 18. Brain Dev. 2006. PMID: 16413721
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian B, Zara F. Franceschetti S, et al. Among authors: gambardella a. Epilepsia. 2006 Mar;47(3):640-3. doi: 10.1111/j.1528-1167.2006.00479.x. Epilepsia. 2006. PMID: 16529633 Free article.
740 results