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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. Syrbe S, et al. Among authors: guerrini r. Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195. Brain. 2017. PMID: 29050398 Free PMC article.
X-linked malformations of neuronal migration.
Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL. Dobyns WB, et al. Among authors: guerrini r. Neurology. 1996 Aug;47(2):331-9. doi: 10.1212/wnl.47.2.331. Neurology. 1996. PMID: 8757001 Review.
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy.
Guerrini R, Dubeau F, Dulac O, Barkovich AJ, Kuzniecky R, Fett C, Jones-Gotman M, Canapicchi R, Cross H, Fish D, Bonanni P, Jambaqué I, Andermann F. Guerrini R, et al. Ann Neurol. 1997 Jan;41(1):65-73. doi: 10.1002/ana.410410112. Ann Neurol. 1997. PMID: 9005867
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Walsh CA, et al. Gleeson JG, et al. Among authors: guerrini r. Ann Neurol. 1999 Feb;45(2):146-53. doi: 10.1002/1531-8249(199902)45:2<146::aid-ana3>3.0.co;2-n. Ann Neurol. 1999. PMID: 9989615
1,080 results