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Preview	Issue Date	Title	Author(s)
	2012	KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy	Weckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; 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, S.; Mulley, J.; et al.
	2004	Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II	Hermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
	2008	SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome	Gilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
	2005	Analysis of normal and mutant iduronate-2-sulphatase conformation	Parkinson-Lawrence, E.; Turner, C.; Hopwood, J.; Brooks, D.
	2005	Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)	Scheffer, I.; Harkin, L.; Dibbens, L.; Mulley, J.; Berkovic, S.
	2002	Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B	Wallace, R.; Scheffer, I.; Parasivam, G.; Barnett, S.; Wallace, G.; Sutherland, G.; Berkovic, S.; Mulley, J.
	2001	Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients	Perkins, K.; Muller, V.; Weber, B.; Hopwood, J.