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A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D. Campostrini G, et al. Among authors: gambardella a. Front Mol Neurosci. 2018 Aug 6;11:269. doi: 10.3389/fnmol.2018.00269. eCollection 2018. Front Mol Neurosci. 2018. PMID: 30127718 Free PMC article.
GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.
Gambardella A, Manna I, Labate A, Chifari R, La Russa A, Serra P, Cittadella R, Bonavita S, Andreoli V, LePiane E, Sasanelli F, Di Costanzo A, Zappia M, Tedeschi G, Aguglia U, Quattrone A. Gambardella A, et al. Neurology. 2003 Feb 25;60(4):560-3. doi: 10.1212/01.wnl.0000046520.79877.d8. Neurology. 2003. PMID: 12601092
Prodynorphin gene promoter polymorphism and temporal lobe epilepsy.
Gambardella A, Manna I, Labate A, Chifari R, Serra P, La Russa A, LePiane E, Cittadella R, Andreoli V, Sasanelli F, Zappia M, Aguglia U, Quattrone A. Gambardella A, et al. Epilepsia. 2003 Sep;44(9):1255-6. doi: 10.1046/j.1528-1157.2003.18003.x. Epilepsia. 2003. PMID: 12919401 Free article. No abstract available.
Temporal lobe epilepsy as a unique manifestation of multiple sclerosis.
Gambardella A, Valentino P, Labate A, Sibilia G, Ruscica F, Colosimo E, Nisticò R, Messina D, Zappia M, Quattrone A. Gambardella A, et al. Can J Neurol Sci. 2003 Aug;30(3):228-32. doi: 10.1017/s031716710000264x. Can J Neurol Sci. 2003. PMID: 12945947
Startle epilepsy complicating aspartylglucosaminuria.
Labate A, Barone R, Gambardella A, Civitelli D, Fiumara A, Annesi G, Zappia M, Pavone L, Quattrone A. Labate A, et al. Among authors: gambardella a. Brain Dev. 2004 Mar;26(2):130-3. doi: 10.1016/S0387-7604(03)00069-X. Brain Dev. 2004. PMID: 15036433
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
738 results