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Page 1
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR. Carapancea E, et al. Among authors: weckhuysen s. Neurology. 2023 Mar 21;100(12):e1234-e1247. doi: 10.1212/WNL.0000000000206755. Epub 2023 Jan 4. Neurology. 2023. PMID: 36599696 Free PMC article.
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S. Weckhuysen S, et al. Epilepsia. 2016 Jun;57(6):994-1003. doi: 10.1111/epi.13391. Epub 2016 May 13. Epilepsia. 2016. PMID: 27173016 Free article.
Ictal perfusion patterns associated with single MRI-visible focal dysplastic lesions: implications for the noninvasive delineation of the epileptogenic zone.
Dupont P, Van Paesschen W, Palmini A, Ambayi R, Van Loon J, Goffin J, Weckhuysen S, Sunaert S, Thomas B, Demaerel P, Sciot R, Becker AJ, Vanbilloen H, Mortelmans L, Van Laere K. Dupont P, et al. Among authors: weckhuysen s. Epilepsia. 2006 Sep;47(9):1550-7. doi: 10.1111/j.1528-1167.2006.00628.x. Epilepsia. 2006. PMID: 16981872 Free article.
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
EPICURE Consortium; Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Among authors: weckhuysen s. Epilepsia. 2012 Feb;53(2):308-18. doi: 10.1111/j.1528-1167.2011.03379.x. Epub 2012 Jan 13. Epilepsia. 2012. PMID: 22242659 Free article.
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, Craiu D, Zemel M, Gormley P, Lal D; EuroEPINOMICS Dravet working group; Myers CT, Mefford HC, Palotie A, Helbig I, Meier JC, De Jonghe P, Weckhuysen S, Schwarz G. Dejanovic B, et al. Among authors: weckhuysen s. EMBO Mol Med. 2015 Dec;7(12):1580-94. doi: 10.15252/emmm.201505323. EMBO Mol Med. 2015. PMID: 26613940 Free PMC article.
Normalization of 14-3-3 in CJD.
Schrooten M, De Vooght W, Weckhuysen S, Van Paesschen W, Van Damme P. Schrooten M, et al. Among authors: weckhuysen s. Acta Neurol Belg. 2008 Jun;108(2):64-6. Acta Neurol Belg. 2008. PMID: 18795599
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, Craiu D, Zemel M, Gormley P, Lal D; EuroEPINOMICS Dravet working group; Myers CT, Mefford HC, Palotie A, Helbig I, Meier JC, De Jonghe P, Weckhuysen S, Schwarz G. Dejanovic B, et al. Among authors: weckhuysen s. EMBO Mol Med. 2017 Dec;9(12):1764. doi: 10.15252/emmm.201708525. EMBO Mol Med. 2017. PMID: 29196314 Free PMC article.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
170 results