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Page 1
The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Baldassari S, et al. Among authors: striano p. Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093711 Free PMC article.
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. Mancardi MM, et al. Among authors: striano p. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.
Lateralizing value of the auditory aura in partial seizures.
Florindo I, Bisulli F, Pittau F, Naldi I, Striano P, Striano S, Michelucci R, Testoni S, Baruzzi A, Tinuper P. Florindo I, et al. Among authors: striano p, striano s. Epilepsia. 2006;47 Suppl 5:68-72. doi: 10.1111/j.1528-1167.2006.00881.x. Epilepsia. 2006. PMID: 17239110 Free article.
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.
Bovo G, Diani E, Bisulli F, Di Bonaventura C, Striano P, Gambardella A, Ferlazzo E, Egeo G, Mecarelli O, Elia M, Bianchi A, Bortoluzzi S, Vettori A, Aguglia U, Binelli S, De Falco A, Coppola G, Gobbi G, Sofia V, Striano S, Tinuper P, Giallonardo AT, Michelucci R, Nobile C. Bovo G, et al. Among authors: striano p, striano s. Neurosci Lett. 2008 May 2;436(1):23-6. doi: 10.1016/j.neulet.2008.02.045. Epub 2008 Mar 4. Neurosci Lett. 2008. PMID: 18355961
No major role for the EMX2 gene in schizencephaly.
Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. Merello E, et al. Among authors: striano p. Am J Med Genet A. 2008 May 1;146A(9):1142-50. doi: 10.1002/ajmg.a.32264. Am J Med Genet A. 2008. PMID: 18409201
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins.
Diani E, Di Bonaventura C, Mecarelli O, Gambardella A, Elia M, Bovo G, Bisulli F, Pinardi F, Binelli S, Egeo G, Castellotti B, Striano P, Striano S, Bianchi A, Ferlazzo E, Vianello V, Coppola G, Aguglia U, Tinuper P, Giallonardo AT, Michelucci R, Nobile C. Diani E, et al. Among authors: striano p, striano s. Epilepsy Res. 2008 Jul;80(1):1-8. doi: 10.1016/j.eplepsyres.2008.03.001. Epub 2008 Apr 28. Epilepsy Res. 2008. PMID: 18440780
Eyelid fluttering, typical EEG pattern, and impaired intellectual function: a homogeneous epileptic condition among the patients presenting with eyelid myoclonia.
Capovilla G, Striano P, Gambardella A, Beccaria F, Hirsch E, Casellato S, Romeo A, Rubboli G, Sofia V, Teutonico F, Valenti MP, Striano S. Capovilla G, et al. Among authors: striano p, striano s. Epilepsia. 2009 Jun;50(6):1536-41. doi: 10.1111/j.1528-1167.2008.02002.x. Epub 2009 May 20. Epilepsia. 2009. PMID: 19490056 Free article.
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. Falace A, et al. Among authors: striano p. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727515 Free PMC article.
816 results