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Results 21-30 of 35 (Search time: 0.007 seconds).
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PreviewIssue DateTitleAuthor(s)
2007Deletions or duplications in KCNQ2 can cause benign familial neonatal seizuresHeron, S.; Cox, K.; Grinton, B.; Zuberi, S.; Kivity, S.; Afawi, Z.; Straussberg, R.; Berkovic, S.; Scheffer, I.; Mulley, J.
2004Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interactionRichards, M.; Heron, S.; Spendlove, H.; Scheffer, I.; Grinton, B.; Berkovic, S.; Mulley, J.; Davy, A.
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.
2005Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy ?Tan, N.; Heron, S.; Scheffer, I.; Berkovic, S.; Mulley, J.
2001CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyPhillips, H.; Favre, I.; Kirkpatrick, M.; Zuberi, S.; Goudie, D.; Heron, S.; Scheffer, I.; Sutherland, G.; Berkovic, S.; Bertrand, D.; Mulley, J.
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.