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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: restifo ll. Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3. Epilepsia. 2013. PMID: 23647072 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: restifo ll. 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.
37 results