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Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Johannesen KM, et al. Among authors: gardella e. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 Free PMC article.
Negative myoclonus.
Tassinari CA, Rubboli G, Gardella E. Tassinari CA, et al. Among authors: gardella e. Clin Neurosci. 1995-1996;3(4):209-13. Clin Neurosci. 1995. PMID: 8891393 Review.
Telephone-induced seizures: a new type of reflex epilepsy.
Michelucci R, Gardella E, de Haan GJ, Bisulli F, Zaniboni A, Cantalupo G, Alberto Tassinari C, Tinuper P, Nobile C, Nichelli P, Kasteleijn-Nolst Trenité DG. Michelucci R, et al. Among authors: gardella e. Epilepsia. 2004 Mar;45(3):280-3. doi: 10.1111/j.0013-9580.2004.39703.x. Epilepsia. 2004. PMID: 15009231 Free article.
118 results