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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: sullivan j. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. Nature. 2013. PMID: 23934111 Free PMC article.
Idiopathic Generalized Epilepsy.
Sullivan JE, Dlugos DJ. Sullivan JE, et al. Curr Treat Options Neurol. 2004 May;6(3):231-242. doi: 10.1007/s11940-004-0015-6. Curr Treat Options Neurol. 2004. PMID: 15043806
Antiepileptic drug monotherapy: pediatric concerns.
Sullivan JE 3rd, Dlugos DJ. Sullivan JE 3rd, et al. Semin Pediatr Neurol. 2005 Jun;12(2):88-96. doi: 10.1016/j.spen.2005.03.003. Semin Pediatr Neurol. 2005. PMID: 16114174 Review.
Response to treatment in a prospective national infantile spasms cohort.
Knupp KG, Coryell J, Nickels KC, Ryan N, Leister E, Loddenkemper T, Grinspan Z, Hartman AL, Kossoff EH, Gaillard WD, Mytinger JR, Joshi S, Shellhaas RA, Sullivan J, Dlugos D, Hamikawa L, Berg AT, Millichap J, Nordli DR Jr, Wirrell E; Pediatric Epilepsy Research Consortium. Knupp KG, et al. Among authors: sullivan j. Ann Neurol. 2016 Mar;79(3):475-84. doi: 10.1002/ana.24594. Epub 2016 Feb 13. Ann Neurol. 2016. PMID: 26704170 Free PMC article. Clinical Trial.
Epileptic spasms are a feature of DEPDC5 mTORopathy.
Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: sullivan j. Neurol Genet. 2015 Jul 23;1(2):e17. doi: 10.1212/NXG.0000000000000016. eCollection 2015 Aug. Neurol Genet. 2015. PMID: 27066554 Free PMC article.
Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort.
Knupp KG, Leister E, Coryell J, Nickels KC, Ryan N, Juarez-Colunga E, Gaillard WD, Mytinger JR, Berg AT, Millichap J, Nordli DR Jr, Joshi S, Shellhaas RA, Loddenkemper T, Dlugos D, Wirrell E, Sullivan J, Hartman AL, Kossoff EH, Grinspan ZM, Hamikawa L; Pediatric Epilepsy Research Consortium. Knupp KG, et al. Among authors: sullivan j. Epilepsia. 2016 Nov;57(11):1834-1842. doi: 10.1111/epi.13557. Epub 2016 Sep 12. Epilepsia. 2016. PMID: 27615012 Free PMC article.
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Berg AT, Coryell J, Saneto RP, Grinspan ZM, Alexander JJ, Kekis M, Sullivan JE, Wirrell EC, Shellhaas RA, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, Keator C, Dobyns WB, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ Jr, Koh S. Berg AT, et al. Among authors: sullivan je. JAMA Pediatr. 2017 Sep 1;171(9):863-871. doi: 10.1001/jamapediatrics.2017.1743. JAMA Pediatr. 2017. PMID: 28759667 Free PMC article.
4,560 results