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De novo mutations in epileptic encephalopathies.
Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. Epi4K Consortium, et al. Among authors: ottman r. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. Nature. 2013. PMID: 23934111 Free PMC article.
Genetic influences on myoclonic and absence seizures.
Winawer MR, Rabinowitz D, Pedley TA, Hauser WA, Ottman R. Winawer MR, et al. Among authors: ottman r. Neurology. 2003 Dec 9;61(11):1576-81. doi: 10.1212/wnl.61.11.1576. Neurology. 2003. PMID: 14663045 Free PMC article.
The Epilepsy Phenome/Genome Project (EPGP) informatics platform.
Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M; EPGP Investigators. Nesbitt G, et al. Int J Med Inform. 2013 Apr;82(4):248-59. doi: 10.1016/j.ijmedinf.2012.03.004. Epub 2012 May 10. Int J Med Inform. 2013. PMID: 22579394 Free PMC article.
Epi4K: gene discovery in 4,000 genomes.
Epi4K Consortium. Epi4K Consortium. Epilepsia. 2012 Aug;53(8):1457-67. doi: 10.1111/j.1528-1167.2012.03511.x. Epub 2012 May 29. Epilepsia. 2012. PMID: 22642626 Free PMC article.
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB. Heinzen EL, et al. Among authors: ottman r. Am J Hum Genet. 2012 Aug 10;91(2):293-302. doi: 10.1016/j.ajhg.2012.06.016. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863189 Free PMC article.
231 results