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Page 1
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A; EuroEPINOMICS‐RES Dravet working group. Djémié T, et al. Among authors: zara f. Mol Genet Genomic Med. 2016 Apr 14;4(4):457-64. doi: 10.1002/mgg3.217. eCollection 2016 Jul. Mol Genet Genomic Med. 2016. PMID: 27465585 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.
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.
Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, Elia M, Ferrari A, Fontana E, Gaggero R, Giannotta M, Giordano L, Granata T, La Selva L, Luisa Lispi M, Santucci M, Vanadia F, Veggiotti P, Vigliano P, Viri M, Dagna Bricarelli F, Bianchi A, Zara F. Madia F, et al. Among authors: zara f. Epilepsy Res. 2003 Mar;53(3):196-200. doi: 10.1016/s0920-1211(03)00022-6. Epilepsy Res. 2003. PMID: 12694927
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
535 results