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PreviewIssue DateTitleAuthor(s)
2007Association studies and functional validation or functional validation alone?Heron, S.; Sanchez, L.; Scheffer, I.; Berkovic, S.; Mulley, J.
2002X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARXScheffer, I.; Wallace, R.; Phillips, F.; Hewson, P.; Reardon, K.; Parasivam, G.; Stromme, P.; Berkovic, S.; Gecz, J.; Mulley, J.
2003Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasmsWallace, R.; Hodgson, B.; Grinton, B.; Gardiner, R.; Robinson, R.; Rodriguez-Casero, V.; Sadleir, L.; Morgan, J.; Harkin, L.; Dibbens, L.; Yamamoto, T.; Andermann, E.; Mulley, J.; Berkovic, S.; Scheffer, I.
2004Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsyTan, N.; Heron, S.; Scheffer, I.; Pelekanos, J.; McMahon, J.; Vears, D.; Mulley, J.; Berkovic, S.
2010Detection of microchromosomal aberrations in refractory epilepsy: a pilot studyMcMahon, J.; Scheffer, I.; Nicholl, J.; Waters, W.; Eyre, H.; Hinton, L.; Wilson, P.; Yu, S.; Dibbens, L.; Berkovic, S.; Mulley, J.
2002How mutations in the nAChRs can cause ADNFLE epilepsyBertrand, D.; Picard, F.; Le Hellard, S.; Weiland, S.; Favre, I.; Phillips, H.; Bertrand, S.; Berkovic, S.; Malafosse, A.; Mulley, J.
2003Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsyMcLellan, A.; Phillips, H.; Rittey, C.; Kirkpatrick, M.; Mulley, J.; Goudie, D.; Stephenson, J.; Tolmie, J.; Scheffer, I.; Berkovic, S.; Zuberi, S.
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.
1996The first gene for an idiopathic epilepsy: A fruitful collaboration of Australian Clinical Research and Molecular GeneticsBerkovic, S.; Mulley, J.
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.