Browsing by Author Berkovic, Samuel F.

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Showing results 1 to 9 of 9
Issue DateTitleAuthor(s)Citation
2010Balance impairment in chronic antiepileptic drug users: A twin and sibling study.Seibel, Markus; Berkovic, Samuel F.; Haber, Natalie; Hill, Keith David; Lawrence, Kate; O'Brien, T J; Paton, L M; Petty, S J; Wark, John D.; Concord Clinical School: ANZAC Research InstituteBalance impairment in chronic antiepileptic drug users: A twin and sibling study., Epilepsia, vol.51, 2,pp 280-288
2005Effect of antiepileptic medication on bone mineral measuresMakovey, Joanna; Sambrook, Philip; Berkovic, Samuel F.; Erbas, B; O'Brien, T J; Paton, L M; Petty, S J; Wark, J D; Northern Clinical School: Medicine; Northern Clinical School: MedicineEffect of antiepileptic medication on bone mineral measures, Neurology, vol.65,(9),2005,pp 1358-65
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.Christodoulou, John; Al Raisi, Zahyia; Bayly, Marta; Berkovic, Samuel F.; Brown, Natasha; Desai, Tarishi; Dibbens, Leanne; et al, various; Haan, Eric; Hynes, Kim; Smith, Raffaella; Tarpey, Patrick; Turner, Samantha; Children's Hospital Westmead: Paediatrics & Child HealthEpilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families., Journal of Medical Genetics, vol.47, 3,pp 211-216
2017Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden deathBagnall, Richard; Ingles, Jodie; Semsarian, Chris; Berkovic, Samuel F.; Yeates, Laura; Central Clinical School: Medicine; Central Clinical School: Centenary Institute; Central Clinical School: Centenary InstituteExome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death, Genetics in Medicine, vol.19, 10, 2017,pp 1127-1133
2014Genetic analysis of PHOX2B in sudden unexpected death in epilepsy casesBagnall, Richard; Semsarian, Chris; Berkovic, Samuel F.; Crompton, Douglas; Cutmore, Carina; Regan, Bridgid; Scheffer, Ingrid; Central Clinical School: Centenary Institute; Central Clinical School: Centenary InstituteGenetic analysis of PHOX2B in sudden unexpected death in epilepsy cases, Neurology, vol.83, 11, 2014,pp 1018-1021
2012In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remissionBurke, David; Tomlinson, Susan; Berkovic, Samuel F.; Bostock, Hugh; Grinton, Bronwyn; Hanna, Michael; Kiernan, Matthew C; Kullmann, Dimitri; Scheffer, Ingrid; Central Clinical School: Medicine; Central Clinical School: MedicineIn vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission, Brain: a journal of neurology, vol.135, N/A, 2012,pp 3144-3152
2005Mutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability.Burke, David; Lin, Cindy; Berkovic, Samuel F.; Kiernan, Matthew C.; Krishnan, Arun V.; Central Clinical School: Medicine; Central Clinical School: MedicineMutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability., Brain, vol.128,(8),2005,pp 1841-1846
2013Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Bleasel, Andrew; Afawi, Zaid; Andrade, Danielle M; Berkovic, Samuel F.; Bye, Ann M. E.; Calvert, Sophie; Carvill, Gemma L; Cook, Joseph; Dorschner, Michael O; Freeman, Jeremy L; Gill, D S; Heavin, Sinead; Howell, Katherine B; Khan, Adiba; Kivity, Sara; Korczyn, Amos; Lerman-Sagie, Tally; Lev, Dorit; Møller2, Rikke S; Mackay, Mark; Malone, Stephen; McMahon, Jacinta; Mefford, Heather; O’Roak, Brian J; Rodriguez-Casero, Victoria; Sadleir, Lynette; Scheffer, Ingrid; Shendure, Jay; Stanley, Thorsten; Wallace, Geoffrey; Weaver, Molly; Webster, Richard; Yendle, Simone; Zelnick, Nathanel; Deans Unit: (CIPHER)Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1, Nature Genetics, vol.45, 7, 2013,pp 825-830
2014Weight and fat distribution in patients taking valproate: a valproate-discordant gender-matched twin and sibling pair studyMakovey, Joanna; Berkovic, Samuel F.; Collins, Marnie; Hill, Keith D.; Kantor, Susan; Lawrence, Kate M.; O'Brien, T J; Petty, Sandra J.; Sambrook, P; Wark, J D; Northern Clinical School: MedicineWeight and fat distribution in patients taking valproate: a valproate-discordant gender-matched twin and sibling pair study, Epilepsia, vol.55, 10, 2014,pp 1551-1557