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Results 11-18 of 18 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1995A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsySteinlein, O.; Mulley, J.; Propping, P.; Wallace, R.; Phillips, H.; Sutherland, G.; Scheffer, I.; Berkovic, S.
2005Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)Scheffer, I.; Harkin, L.; Dibbens, L.; Mulley, J.; Berkovic, S.
2008Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor β-subunit mutations outside the ion channel poreHoda, J.; Gu, W.; Friedli, M.; Phillips, H.; Bertrand, S.; Antonarakis, S.; Goudie, D.; Roberts, R.; Scheffer, I.; Marini, C.; Patel, J.; Berkovic, S.; Mulley, J.; Steinlein, O.; Bertrand, D.
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.
2007NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivityDibbens, L.; Ekberg, J.; Taylor, I.; Hodgson, B.; Conroy, S.; Lensink, I.; Kumar, S.; Zielinski, M.; Harkin, L.; Sutherland, G.; Adams, D.; Berkovic, S.; Scheffer, I.; Mulley, J.; Poronnik, P.
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.
2004LGI1 mutations in temporal lobe epilepsiesBerkovic, S.; Izzillo, P.; McMahon, J.; Harkin, L.; McIntosh, A.; Phillips, H.; Briellmann, R.; Wallace, R.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Scheffer, I.; Mulley, J.
2002Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1BWallace, R.; Scheffer, I.; Parasivam, G.; Barnett, S.; Wallace, G.; Sutherland, G.; Berkovic, S.; Mulley, J.

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