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Results 21-29 of 29 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2007SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrumHerlenius, E.; Heron, S.; Grinton, B.; Keay, D.; Scheffer, I.; Mulley, J.; Berkovic, S.
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.
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.
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.
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.
2013Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathiesHeron, S.; Ong, Y.; Yendle, S.; McMahon, J.; Berkovic, S.; Scheffer, I.; Dibbens, L.
2018A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severityKolc, K.; Sadleir, L.; Scheffer, I.; Ivancevic, A.; Roberts, R.; Pham, D.; Gecz, J.

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