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Page 1
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM. Møller RS, et al. Among authors: zara f. Epilepsia. 2015 Sep;56(9):e114-20. doi: 10.1111/epi.13071. Epub 2015 Jun 30. Epilepsia. 2015. PMID: 26122718 Free PMC article.
Lack of SCN1A mutations in familial febrile seizures.
Malacarne M, Madia F, Gennaro E, Vacca D, Güney AI, Buono S, Bernardina BD, Gaggero R, Gobbi G, Lispi ML, Malamaci D, Melideo G, Roccella M, Sferro C, Tiberti A, Vanadia F, Vigevano F, Viri F, Vitali MR, Bricarelli FD, Bianchi A, Zara F. Malacarne M, et al. Among authors: zara f. Epilepsia. 2002 May;43(5):559-62. doi: 10.1046/j.1528-1157.2002.29301.x. Epilepsia. 2002. PMID: 12027919 Free article.
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F. Gennaro E, et al. Among authors: zara f. Biochem Biophys Res Commun. 2006 Mar 10;341(2):489-93. doi: 10.1016/j.bbrc.2005.12.209. Epub 2006 Jan 13. Biochem Biophys Res Commun. 2006. PMID: 16430863
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: zara f. Epilepsia. 2006 Mar;47(3):640-3. doi: 10.1111/j.1528-1167.2006.00479.x. Epilepsia. 2006. PMID: 16529633 Free article.
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
Striano P, Lispi ML, Gennaro E, Madia F, Traverso M, Bordo L, Aridon P, Martinelli Boneschi F, Barone B, dalla Bernardina B, Bianchi A, Capovilla G, De Marco P, Dulac O, Gaggero R, Gambardella A, Nabbout R, Prud'homme JF, Day R, Vanadia F, Vecchi M, Veggiotti P, Vigevano F, Viri M, Minetti C, Zara F. Striano P, et al. Among authors: zara f. Epilepsia. 2006 Jun;47(6):1029-34. doi: 10.1111/j.1528-1167.2006.00521.x. Epilepsia. 2006. PMID: 16822249 Free article.
535 results