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Results 11-20 of 27 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2001Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plusWallace, R.; Scheffer, I.; Barnett, S.; Richards, M.; Dibbens, L.; Desai, R.; Lerman-Sagie, T.; Lev, D.; Mazarib, A.; Brand, N.; Ben-Zeev, B.; Goikhman, I.; Singh, R.; Kremmidiotis, G.; Gardner, A.; Sutherland, G.; George Jr., A.; Mulley, J.; Berkovic, S.
2006Human epilepsies: interaction of genetic and acquired factorsBerkovic, S.; Mulley, J.; Scheffer, I.; Petrou, S.
2007eneralized epilepsy with febrile seizures plus-associated sodium channel β1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel functionXu, R.; Thomas, E.; Gazina, E.; Richards, K.; Quick, M.; Wallace, R.; Harkin, L.; Heron, S.; Berkovic, S.; Scheffer, I.; Mulley, J.; Petrou, S.
2002Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyStromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.
2007A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channelXu, R.; Thomas, E.; Jenkins, M.; Gazina, E.; Chiu, C.; Heron, S.; Mulley, J.; Scheffer, I.; Berkovic, S.; Petrou, S.
2007Association studies and functional validation or functional validation alone?Heron, S.; Sanchez, L.; Scheffer, I.; Berkovic, S.; Mulley, J.
2007Channelopathies in idiopathic epilepsyHeron, S.; Scheffer, I.; Berkovic, S.; Dibbens, L.; Mulley, J.
2007Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?Taylor, I.; Hodgson, B.; Scheffer, I.; Mulley, J.; Berkovic, S.; Dibbens, L.
2005Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy ?Tan, N.; Heron, S.; Scheffer, I.; Berkovic, S.; Mulley, J.
2011Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsConlin, L.; Kramer, W.; Hutchinson, A.; Li, X.; Riethman, H.; Hakonarson, H.; Mulley, J.; Scheffer, I.; Berkovic, S.; Hosain, S.; Spinner, N.