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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J. Corbett MA, et al. Among authors: guerrini r. Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y. Nat Commun. 2019. PMID: 31664034 Free PMC article.
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.
Gennaro E, Malacarne M, Carbone I, Riggio MC, Bianchi A, Bonanni P, Boniver C, Dalla Bernardina B, De Marco P, Giordano L, Guerrini R, Santorum E, Sebastianelli R, Vecchi M, Veggiotti P, Vigevano F, Bricarelli FD, Zara F. Gennaro E, et al. Among authors: guerrini r. Epilepsia. 1999 Dec;40(12):1799-803. doi: 10.1111/j.1528-1157.1999.tb01601.x. Epilepsia. 1999. PMID: 10612347 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.
1,131 results