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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jan… See abstract for full author list ➔ Johannesen KM, et al. Among authors: poduri a. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.
Poduri A, Wang Y, Gordon D, Barral-Rodriguez S, Barker-Cummings C, Ulgen A, Chitsazzadeh V, Hill RS, Risch N, Hauser WA, Pedley TA, Walsh CA, Ottman R. Poduri A, et al. Neurology. 2009 Oct 20;73(16):1264-72. doi: 10.1212/WNL.0b013e3181bd10d3. Neurology. 2009. PMID: 19841378 Free PMC article.
Experience with rufinamide in a pediatric population: a single center's experience.
Vendrame M, Loddenkemper T, Gooty VD, Takeoka M, Rotenberg A, Bergin AM, Eksioglu YZ, Poduri A, Duffy FH, Libenson M, Bourgeois BF, Kothare SV. Vendrame M, et al. Among authors: poduri a. Pediatr Neurol. 2010 Sep;43(3):155-8. doi: 10.1016/j.pediatrneurol.2010.04.003. Pediatr Neurol. 2010. PMID: 20691934
Rufinamide for the treatment of epileptic spasms.
Olson HE, Loddenkemper T, Vendrame M, Poduri A, Takeoka M, Bergin AM, Libenson MH, Duffy FH, Rotenberg A, Coulter D, Bourgeois BF, Kothare SV. Olson HE, et al. Among authors: poduri a. Epilepsy Behav. 2011 Feb;20(2):344-8. doi: 10.1016/j.yebeh.2010.11.023. Epub 2011 Jan 13. Epilepsy Behav. 2011. PMID: 21233024
Micro-duplications of 1q32.1 associated with neurodevelopmental delay.
Olson HE, Shen Y, Poduri A, Gorman MP, Dies KA, Robbins M, Hundley R, Wu B, Sahin M. Olson HE, et al. Among authors: poduri a. Eur J Med Genet. 2012 Feb;55(2):145-50. doi: 10.1016/j.ejmg.2011.12.008. Epub 2012 Jan 2. Eur J Med Genet. 2012. PMID: 22266072 Free PMC article.
Dacrystic seizures: demographic, semiologic, and etiologic insights from a multicenter study in long-term video-EEG monitoring units.
Blumberg J, Fernández IS, Vendrame M, Oehl B, Tatum WO, Schuele S, Alexopoulos AV, Poduri A, Kellinghaus C, Schulze-Bonhage A, Loddenkemper T. Blumberg J, et al. Among authors: poduri a. Epilepsia. 2012 Oct;53(10):1810-9. doi: 10.1111/j.1528-1167.2012.03578.x. Epub 2012 Jul 10. Epilepsia. 2012. PMID: 22780551 Free PMC article.
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.
McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, Bhate S, Cronin A, Curran A, Desurkar A, Farrell MA, Hughes E, Jefferson R, Lascelles K, Livingston J, Meyer E, McLellan A, Poduri A, Scheffer IE, Spinty S, Kurian MA, Kneen R. McTague A, et al. Among authors: poduri a. Brain. 2013 May;136(Pt 5):1578-91. doi: 10.1093/brain/awt073. Epub 2013 Apr 18. Brain. 2013. PMID: 23599387 Free PMC article.
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group. Weckhuysen S, et al. Among authors: poduri a. Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9. Neurology. 2013. PMID: 24107868 Free PMC article.
276 results