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PreviewIssue DateTitleAuthor(s)
2002Sodium-channel defects in benign familial neonatal-infantile seizuresHeron, S.; Crossland, K.; Andermann, E.; Phillips, H.; Hall, A.; Bleasel, A.; Shevell, M.; Mercho, S.; Seni, M.; Guiot, M.; Mulley, J.; Berkovic, S.; Scheffer, I.
2013Rare variants in single-minded 1 (SIM1) are associated with severe obesityRamachandrappa, S.; Raimondo, A.; Cali, A.; Keogh, J.; Henning, E.; Saeed, S.; Thompson, A.; Garg, S.; Bochukova, E.; Brage, S.; Trowse, V.; Wheeler, E.; Sullivan, A.; Dattani, M.; Clayton, P.; Datta, V.; Bruning, J.; Wareham, N.; O'Rahilly, S.; Peet, D.; et al.
2004Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathyBerkovic, S.; Heron, S.; Giordano, L.; Marini, C.; Guerrini, R.; Kaplan, R.; Gambardella, A.; Steinlein, O.; Grinton, B.; Dean, J.; Bordo, L.; Hodgson, B.; Yamamoto, T.; Mulley, J.; Zara, F.; Scheffer, I.
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.
2014Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delayMontagne, L.; Raimondo, A.; Delobel, B.; Duban-Bedu, B.; Noblet, F.; Dechaume, A.; Bersten, D.; Meyre, D.; Whitelaw, M.; Froguel, P.; Bonnefond, A.
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.

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