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Preview	Issue Date	Title	Author(s)
	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.
	2014	Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations	Scheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
	2010	Timing of de novo mutagenesis - A twin study of sodium-channel mutations	Vadlamudi, L.; Dibbens, L.; Lawrence, K.; Iona, X.; McMahon, J.; Murrell, W.; Mackay-Sim, A.; Scheffer, I.; Berkovic, S.
	2010	Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study	McIntosh, A.; McMahon, J.; Dibbens, L.; Iona, X.; Mulley, J.; Scheffer, I.; Berkovic, S.
	2010	De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin	Heron, S.; Scheffer, I.; Iona, X.; Zuberi, S.; Birch, R.; McMahon, J.; Bruce, C.; Berkovic, S.; Mulley, J.
	2011	De novo SCN1A mutations in migrating partial seizures of infancy	Carranza Rojo, D.; Hamiwka, L.; McMahon, J.; Dibbens, L.; Arsov, T.; Suls, A.; Stodberg, T.; Kelley, K.; Wirrell, E.; Appleton, B.; Mackay, M.; Freeman, J.; Yendle, S.; Berkovic, S.; Bienvenu, T.; De Jonghe, P.; Thorburn, D.; Mulley, J.; Mefford, H.; Scheffer, I.
	2014	KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine	Milligan, C.; Li, M.; Gazina, E.; Heron, S.; Nair, U.; Trager, C.; Reid, C.; Venkat, A.; Younkin, D.; Dlugos, D.; Petrovski, S.; Goldstein, D.; Dibbens, L.; Scheffer, I.; Berkovic, S.; Petrou, S.
	2010	Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families	Hynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.
	2013	Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies	Heron, S.; Ong, Y.; Yendle, S.; McMahon, J.; Berkovic, S.; Scheffer, I.; Dibbens, L.
	2018	A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity	Kolc, K.; Sadleir, L.; Scheffer, I.; Ivancevic, A.; Roberts, R.; Pham, D.; Gecz, J.