Adelaide Research & Scholarship: Search

Search

Results 1-10 of 13 (Search time: 0.002 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	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.
	2004	Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families	Marini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
	2001	Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)	Scheffer, I.; Wallace, R.; Mulley, J.; Berkovic, S.
	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.
	2005	Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)	Scheffer, I.; Harkin, L.; Dibbens, L.; Mulley, J.; Berkovic, S.
	2008	Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor β-subunit mutations outside the ion channel pore	Hoda, J.; Gu, W.; Friedli, M.; Phillips, H.; Bertrand, S.; Antonarakis, S.; Goudie, D.; Roberts, R.; Scheffer, I.; Marini, C.; Patel, J.; Berkovic, S.; Mulley, J.; Steinlein, O.; Bertrand, D.
	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.