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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium; Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM. Kasperaviciute D, et al. Among authors: stogmann e. Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6. Brain. 2013. PMID: 24014518 Free PMC article.
Andreas Rett and benign familial neonatal convulsions revisited.
Zimprich F, Ronen GM, Stögmann W, Baumgartner C, Stögmann E, Rett B, Pappas C, Leppert M, Singh N, Anderson VE. Zimprich F, et al. Among authors: stogmann w, stogmann e. Neurology. 2006 Sep 12;67(5):864-6. doi: 10.1212/01.wnl.0000234066.46806.90. Neurology. 2006. PMID: 16966552
Clinical seizure lateralization in frontal lobe epilepsy.
Bonelli SB, Lurger S, Zimprich F, Stogmann E, Assem-Hilger E, Baumgartner C. Bonelli SB, et al. Among authors: stogmann e. Epilepsia. 2007 Mar;48(3):517-23. doi: 10.1111/j.1528-1167.2006.00943.x. Epilepsia. 2007. PMID: 17346249 Free article.
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.
Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, Schuh E, Baumgartner C, Mueller JC, Illig T, Wichmann HE, Lichtner P, Meitinger T, Strom TM, Zimprich A, Zimprich F. Schlachter K, et al. Among authors: stogmann e. Neurology. 2009 Mar 17;72(11):974-8. doi: 10.1212/01.wnl.0000344401.02915.00. Neurology. 2009. PMID: 19289736
82 results