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Results 11-16 of 16 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
2002Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyStromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.
2007A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channelXu, R.; Thomas, E.; Jenkins, M.; Gazina, E.; Chiu, C.; Heron, S.; Mulley, J.; Scheffer, I.; Berkovic, S.; Petrou, S.
2007SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrumHerlenius, E.; Heron, S.; Grinton, B.; Keay, D.; Scheffer, I.; Mulley, J.; Berkovic, S.
2006Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adultsJansen, F.; Sadleir, L.; Harkin, L.; Vadlamudi, L.; McMahon, J.; Mulley, J.; Scheffer, I.; Berkovic, S.