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Results 1-10 of 12 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2007Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variantsHeron, S.; Khosravani, H.; Varela, D.; Bladen, C.; Williams, T.; Newman, M.; Scheffer, I.; Berkovic, S.; Mulley, J.; Zamponi, G.
2007Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyCavalleri, G.; Weale, M.; Shianna, K.; Singh, R.; Lynch, J.; Grinton, B.; Szoeke, C.; Murphy, K.; Kinirons, P.; O'Rourke, D.; Ge, D.; Depondt, C.; Claeys, K.; Pandolfo, M.; Gumbs, C.; Walley, N.; McNamara, J.; Mulley, J.; Linney, K.; Sheffield, L.; et al.
2007Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell linesMcRae, A.; Matigian, N.; Vadlamudi, L.; Mulley, J.; Mowry, B.; Martin, N.; Berkovic, S.; Hayward, N.; Visscher, P.
2007Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutationsScheffer, I.; Harkin, L.; Grinton, B.; Dibbens, L.; Turner, S.; Zielinski, M.; Xu, R.; Jackson, G.; Adams, J.; Connellan, M.; Petrou, S.; Wellard, R.; Briellmann, R.; Wallace, R.; Mulley, J.; Berkovic, 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.
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.
2007SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrumHerlenius, E.; Heron, S.; Grinton, B.; Keay, D.; Scheffer, I.; Mulley, J.; Berkovic, S.