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Page 1
PRRT2 mutations: exploring the phenotypical boundaries.
Djémié T, Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A. Djémié T, et al. Among authors: hendrickx r. J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):462-5. doi: 10.1136/jnnp-2013-305122. Epub 2013 Oct 7. J Neurol Neurosurg Psychiatry. 2014. PMID: 24101679
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
Weckhuysen S, Holmgren P, Hendrickx R, Jansen AC, Hasaerts D, Dielman C, de Bellescize J, Boutry-Kryza N, Lesca G, Von Spiczak S, Helbig I, Gill D, Yendle S, Møller RS, Klitten L, Korff C, Godfraind C, Van Rijckevorsel K, De Jonghe P, Hjalgrim H, Scheffer IE, Suls A. Weckhuysen S, et al. Among authors: hendrickx r. Epilepsia. 2013 May;54(5):e74-80. doi: 10.1111/epi.12124. Epub 2013 Feb 14. Epilepsia. 2013. PMID: 23409955 Free 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: hendrickx r. 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.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium. Suls A, et al. Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207121 Free PMC article.
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S. Lemke JR, et al. Among authors: hendrickx r. Ann Neurol. 2014 Jan;75(1):147-54. doi: 10.1002/ana.24073. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24272827 Free PMC article.
Loss of synaptic Zn2+ transporter function increases risk of febrile seizures.
Hildebrand MS, Phillips AM, Mullen SA, Adlard PA, Hardies K, Damiano JA, Wimmer V, Bellows ST, McMahon JM, Burgess R, Hendrickx R, Weckhuysen S, Suls A, De Jonghe P, Scheffer IE, Petrou S, Berkovic SF, Reid CA. Hildebrand MS, et al. Among authors: hendrickx r. Sci Rep. 2015 Dec 9;5:17816. doi: 10.1038/srep17816. Sci Rep. 2015. PMID: 26647834 Free PMC article.
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG, Brilstra EH, van Kempen MJ, Van't Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, Marini C, Mei D, Møller RS, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S; EuroEPINOMICS RES Consortium; Koeleman BP. de Kovel CG, et al. Among authors: hendrickx r. Mol Genet Genomic Med. 2016 Jul 30;4(5):568-80. doi: 10.1002/mgg3.235. eCollection 2016 Sep. Mol Genet Genomic Med. 2016. PMID: 27652284 Free PMC article.
Screening for genetic variants in BDNF that contribute to childhood obesity.
Zegers D, Hendrickx R, Verrijken A, Van Hoorenbeeck K, Van Camp JK, de Craemer V, Rooman RP, Desager KN, Massa G, Van Gaal LF, Van Hul W, Beckers S. Zegers D, et al. Among authors: hendrickx r. Pediatr Obes. 2014 Feb;9(1):36-42. doi: 10.1111/j.2047-6310.2012.00131.x. Epub 2013 Jan 16. Pediatr Obes. 2014. PMID: 23325614
Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.
Zegers D, Beckers S, Hendrickx R, Van Camp JK, de Craemer V, Verrijken A, Van Hoorenbeeck K, Verhulst SL, Rooman RP, Desager KN, Massa G, Van Gaal LF, Van Hul W. Zegers D, et al. Among authors: hendrickx r. Int J Obes (Lond). 2014 Jul;38(7):1000-4. doi: 10.1038/ijo.2013.188. Epub 2013 Oct 7. Int J Obes (Lond). 2014. PMID: 24097297
Prevalence of rare MC3R variants in obese cases and lean controls.
Zegers D, Beckers S, Hendrickx R, Van Camp JK, Van Hoorenbeeck K, Desager KN, Massa G, Van Gaal LF, Van Hul W. Zegers D, et al. Among authors: hendrickx r. Endocrine. 2013 Oct;44(2):386-90. doi: 10.1007/s12020-012-9862-1. Epub 2012 Dec 24. Endocrine. 2013. PMID: 23264184
71 results