Onderzoekers
drs. S. Weckhuijsen
neuroloog
Functie in Kempenhaeghe:
Specialisme:
Epileptologie
Subspecialisme:
epilepsie en genetica
Promovendus
Wetenschappelijke publicaties
- KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, Peter de Jonghe.Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. PMID: 22275249
- Genome-wide linkage meta-analysis idenifies 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. Epilepsia. 2012 Jan 13. doi: 10.1111/j.1528-1167.2011.03379.x. [Epub ahead of print] PMID: 22242659
- Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C. Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P. J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):90-3. PMID: 20019223 [PubMed - in process]
Betrokken bij de volgende onderzoeken
- Clinical and molecular genetic aspects of monogenic idiopathic epilepsies
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