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Results 1-10 of 33 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2003Channelopathies as a genetic cause of epilepsyMulley, J.; Scheffer, I.; Petrou, S.; Berkovic, S.
1998Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Phillips, H.; Scheffer, I.; Crossland, K.; Bhatia, K.; Fish, D.; Marsden, C.; Howell, S.; Stephenson, J.; Tolmie, J.; Plazzi, G.; Eeg-Olofsson, O.; Singh, R.; Lopes-Cendes, I.; Andermann, E.; Berkovic, S.; Mulley, J.
2002Sodium-channel defects in benign familial neonatal-infantile seizuresHeron, S.; Crossland, K.; Andermann, E.; Phillips, H.; Hall, A.; Bleasel, A.; Shevell, M.; Mercho, S.; Seni, M.; Guiot, M.; Mulley, J.; Berkovic, S.; Scheffer, I.
1998Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1BWallace, R.; Wang, D.; Singh, R.; Scheffer, I.; George Jnr., A.; Phillips, H.; Saar, K.; Reis, A.; Johnson, E.; Sutherland, G.; Berkovic, S.; Mulley, J.
2000A de novo mutation in sporadic nocturnal frontal lobe epilepsyPhillips, H.; Marini, C.; Scheffer, I.; Sutherland, G.; Mulley, J.; Berkovic, S.
2005SCN1A mutations and epiliepsyMulley, J.; Scheffer, I.; Petrou, S.; Dibbens, L.; Berkovic, S.; Harkin, L.
2004Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathyBerkovic, S.; Heron, S.; Giordano, L.; Marini, C.; Guerrini, R.; Kaplan, R.; Gambardella, A.; Steinlein, O.; Grinton, B.; Dean, J.; Bordo, L.; Hodgson, B.; Yamamoto, T.; Mulley, J.; Zara, F.; Scheffer, I.
2011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaCorbett, M.; Schwake, M.; Bahlo, M.; Dibbens, L.; Lin, M.; Gandolfo, L.; Vears, D.; O'Sullivan, J.; Robertson, T.; Bayly, M.; Gardner, A.; Vlaar, A.; Korenke, G.; Bloem, B.; de Coo, I.; Verhagen, J.; Lehesjoki, A.; Gecz, J.; Berkovic, S.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
2004Genetic association studies in epilepsy: The truth is out thereTan, N.; Mulley, J.; Berkovic, S.