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PreviewIssue DateTitleAuthor(s)
2010Timing of de novo mutagenesis - A twin study of sodium-channel mutationsVadlamudi, L.; Dibbens, L.; Lawrence, K.; Iona, X.; McMahon, J.; Murrell, W.; Mackay-Sim, A.; Scheffer, I.; Berkovic, S.
2010Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective studyMcIntosh, A.; McMahon, J.; Dibbens, L.; Iona, X.; Mulley, J.; Scheffer, I.; Berkovic, S.
2010Augmented currents of an HCN2 variant in patients with febrile seizure syndromesDibbens, L.; Reid, C.; Hodgson, B.; Thomas, E.; Phillips, A.; Gazina, E.; Cromer, B.; Clarke, A.; Barram, T.; Scheffer, I.; Berkovic, S.; Petrou, S.
2010De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal originHeron, S.; Scheffer, I.; Iona, X.; Zuberi, S.; Birch, R.; McMahon, J.; Bruce, C.; Berkovic, S.; Mulley, J.
2010Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3Heron, S.; Scheffer, I.; Grinton, B.; Eyre, H.; Oliver, K.; Bain, S.; Berkovic, S.; Mulley, J.
2010Neonatal seizures and Long QT Syndrome: A cardiocerebral channelopathy?Heron, S.; Hernandez, M.; Edwards, C.; Edkins, E.; Jansen, F.; Scheffer, I.; Berkovic, S.; Mulley, J.
2010Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disordersWhite, R.; Ho, G.; Schmidt, S.; Scheffer, I.; Fischer, A.; Yendle, S.; Bienvenu, T.; Nectoux, J.; Ellaway, C.; Darmanian, A.; Tong, X.; Cloosterman, D.; Bennetts, B.; Kalra, V.; Fullston, T.; Gecz, J.; Cox, T.; Christodoulou, J.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.
2010Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy familyAzmanov, D.; Zhelyazkova, S.; Dimova, P.; Radionova, M.; Bojinova, V.; Florez, L.; Smith, S.; Tournev, I.; Jablensky, A.; Mulley, J.; Scheffer, I.; Kalaydjieva, L.; Sander, J.
2010Genetics of the epilepsies: Genetic twists in the channels and other talesScheffer, I.; Zhang, Y.; Gecz, J.; Dibbens, L.