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Results 11-20 of 23 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(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.
2012Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrumKlein, K.; O'Brien, T.; Praveen, K.; Heron, S.; Mulley, J.; Foote, S.; Berkovic, S.; Scheffer, I.
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.
2011Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypesMulley, J.; Scheffer, I.; Desai, T.; Bayly, M.; Grinton, B.; Vears, D.; Berkovic, S.; Dibbens, L.
2010Genetics of the epilepsies: Genetic twists in the channels and other talesScheffer, I.; Zhang, Y.; Gecz, J.; Dibbens, L.
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.
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.
2011De novo SCN1A mutations in migrating partial seizures of infancyCarranza Rojo, D.; Hamiwka, L.; McMahon, J.; Dibbens, L.; Arsov, T.; Suls, A.; Stodberg, T.; Kelley, K.; Wirrell, E.; Appleton, B.; Mackay, M.; Freeman, J.; Yendle, S.; Berkovic, S.; Bienvenu, T.; De Jonghe, P.; Thorburn, D.; Mulley, J.; Mefford, H.; Scheffer, I.
2014KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidineMilligan, C.; Li, M.; Gazina, E.; Heron, S.; Nair, U.; Trager, C.; Reid, C.; Venkat, A.; Younkin, D.; Dlugos, D.; Petrovski, S.; Goldstein, D.; Dibbens, L.; Scheffer, I.; Berkovic, S.; Petrou, S.
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.