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Results 1-10 of 11 (Search time: 0.005 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.
2006A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1AMulley, J.; Nelson, P.; Guerrero, S.; Dibbens, L.; Iona, X.; McMahon, J.; Harkin, L.; Schouten, J.; Yu, S.; Berkovic, S.; Scheffer, I.
2006Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adultsJansen, F.; Sadleir, L.; Harkin, L.; Vadlamudi, L.; McMahon, J.; Mulley, J.; Scheffer, I.; Berkovic, S.
2005Susceptibility genes for complex epilepsyMulley, J.; Scheffer, I.; Harkin, L.; Berkovic, S.; Dibbens, L.
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.
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.
2006De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective studyBerkovic, S.; Harkin, L.; McMahon, J.; Pelekanos, J.; Zuberi, S.; Wirrell, E.; Gill, D.; Iona, X.; Mulley, J.; Scheffer, I.
2005SCN1A mutations and epiliepsyMulley, J.; Scheffer, I.; Petrou, S.; Dibbens, L.; Berkovic, S.; Harkin, L.
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.