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A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy.
Muhle H, Steinich I, von Spiczak S, Franke A, Weber Y, Lerche H, Wittig M, Heidemann S, Suls A, de Jonghe P, Marini C, Guerrini R, Scheffer IE, Berkovic SF, Stephani U, Siebert R, Sander T, Helbig I, Tönnies H. Muhle H, et al. Among authors: guerrini r. Epilepsia. 2010 Dec;51(12):2453-6. doi: 10.1111/j.1528-1167.2010.02712.x. Epub 2010 Sep 24. Epilepsia. 2010. PMID: 21204805 Free article.
Early-onset absence epilepsy and paroxysmal dyskinesia.
Guerrini R, Sanchez-Carpintero R, Deonna T, Santucci M, Bhatia KP, Moreno T, Parmeggiani L, Bernardina BD. Guerrini R, et al. Epilepsia. 2002 Oct;43(10):1224-9. doi: 10.1046/j.1528-1157.2002.13802.x. Epilepsia. 2002. PMID: 12366739 Free article.
The genetic and molecular basis of epilepsy.
Guerrini R, Casari G, Marini C. Guerrini R, et al. Trends Mol Med. 2003 Jul;9(7):300-6. doi: 10.1016/s1471-4914(03)00116-3. Trends Mol Med. 2003. PMID: 12900217 Review.
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Bonanni P, et al. Among authors: guerrini r. Epilepsia. 2004 Feb;45(2):149-58. doi: 10.1111/j.0013-9580.2004.04303.x. Epilepsia. 2004. PMID: 14738422 Free article.
1,080 results