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Page 1
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP. de Kovel CG, et al. Among authors: hammer mf. Epilepsy Res. 2014 Nov;108(9):1511-8. doi: 10.1016/j.eplepsyres.2014.08.020. Epub 2014 Sep 4. Epilepsy Res. 2014. PMID: 25239001 Free PMC article.
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. Veeramah KR, et al. Among authors: hammer mf. Am J Hum Genet. 2012 Mar 9;90(3):502-10. doi: 10.1016/j.ajhg.2012.01.006. Epub 2012 Feb 23. Am J Hum Genet. 2012. PMID: 22365152 Free PMC article.
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF. Veeramah KR, et al. Among authors: hammer mf. Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3. Epilepsia. 2013. PMID: 23647072 Free PMC article.
SCN8A encephalopathy: Research progress and prospects.
Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE. Meisler MH, et al. Among authors: hammer mf. Epilepsia. 2016 Jul;57(7):1027-35. doi: 10.1111/epi.13422. Epub 2016 Jun 8. Epilepsia. 2016. PMID: 27270488 Free PMC article.
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: hammer mf. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
162 results