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Results 31-40 of 76 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(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.
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.
2007Deletions or duplications in KCNQ2 can cause benign familial neonatal seizuresHeron, S.; Cox, K.; Grinton, B.; Zuberi, S.; Kivity, S.; Afawi, Z.; Straussberg, R.; Berkovic, S.; Scheffer, I.; Mulley, J.
2004Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interactionRichards, M.; Heron, S.; Spendlove, H.; Scheffer, I.; Grinton, B.; Berkovic, S.; Mulley, J.; Davy, A.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
2003X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3Gedeon, A.; Nelson, J.; Gecz, J.; Mulley, J.
2011Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutationsDibbens, L.; Kneen, R.; Bayly, M.; Heron, S.; Arsov, T.; Damiano, J.; Desai, T.; Gibbs, J.; McKenzie, F.; Mulley, J.; Ronan, A.; Scheffer, I.
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.
2005Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy ?Tan, N.; Heron, S.; Scheffer, I.; Berkovic, S.; Mulley, J.
2001CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyPhillips, H.; Favre, I.; Kirkpatrick, M.; Zuberi, S.; Goudie, D.; Heron, S.; Scheffer, I.; Sutherland, G.; Berkovic, S.; Bertrand, D.; Mulley, J.