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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: hardies k. 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
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D; AR working group of the EuroEPINOMICS RES Consortium; Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J. Hardies K, et al. Hum Mol Genet. 2015 Apr 15;24(8):2218-27. doi: 10.1093/hmg/ddu740. Epub 2014 Dec 30. Hum Mol Genet. 2015. PMID: 25552650 Free PMC article.
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Hardies K, et al. Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17. Brain. 2015. PMID: 26384929
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: hardies k. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: hardies k. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
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: hardies k. 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: hardies k. 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.
20 results