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Results 1-10 of 12 (Search time: 0.009 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2004Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12Berkovic, S.; Serratosa, J.; Phillips, H.; Xiong, L.; Andermann, E.; Diaz-Otero, F.; Gomez-Garre, P.; Martin, M.; Fernandez-Bullido, Y.; Andermann, F.; Lopes-Cendes, I.; Dubeau, F.; Desbiens, R.; Scheffer, I.; Wallace, R.; Mulley, J.; Pandolfo, M.
2002Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [g2(R43Q)] found in human epilepsyBowser, D.; Wagner, D.; Czajkowski, C.; Cromer, B.; Parker, M.; Wallace, R.; Harkin, L.; Mulley, J.; Marini, C.; Berkovic, S.; Williams, D.; Jones, M.; Petrou, S.
2002Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plusHarkin, L.; Bowser, D.; Dibbens, L.; Singh, R.; Phillips, F.; Wallace, R.; Richards, M.; Williams, D.; Mulley, J.; Berkovic, S.; Scheffer, I.; Petrou, S.
2002A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
2001Mutant GABAA receptor g2-subunit in childhood absence epilepsy and febrile seizuresWallace, R.; Marini, C.; Petrou, S.; Harkin, L.; Bowser, D.; Panchal, R.; Williams, D.; Sutherland, G.; Mulley, J.; Scheffer, I.; Berkovic, 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.
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.
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.
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.