Articles with public access mandates - Samuel F BerkovicLearn more
Not available anywhere: 49
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ...
Nature genetics 45 (5), 546-551, 2013
Mandates: National Health and Medical Research Council, Australia, German Research�…
Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1
A Suls, SA Mullen, YG Weber, K Verhaert, B Ceulemans, R Guerrini, ...
Annals of Neurology: Official Journal of the American Neurological�…, 2009
Mandates: Research Foundation (Flanders)
Recent advances in the molecular genetics of epilepsy
MS Hildebrand, HHM Dahl, JA Damiano, RJH Smith, IE Scheffer, ...
Journal of medical genetics 50 (5), 271-279, 2013
Mandates: National Health and Medical Research Council, Australia
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
SA Mullen, A Suls, P De Jonghe, SF Berkovic, IE Scheffer
Neurology 75 (5), 432-440, 2010
Mandates: Research Foundation (Flanders)
Genetic epilepsy with febrile seizures plus: refining the spectrum
YH Zhang, R Burgess, JP Malone, GC Glubb, KL Helbig, L Vadlamudi, ...
Neurology 89 (12), 1210-1219, 2017
Mandates: National Health and Medical Research Council, Australia
Epilepsy genetics: clinical impacts and biological insights
CA Ellis, S Petrovski, SF Berkovic
The Lancet Neurology 19 (1), 93-100, 2020
Mandates: US National Institutes of Health
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
P Perucca, IE Scheffer, AS Harvey, PA James, S Lunke, N Thorne, C Gaff, ...
Epilepsy research 131, 1-8, 2017
Mandates: National Health and Medical Research Council, Australia
Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine
SA Mullen, PW Carney, A Roten, M Ching, PA Lightfoot, L Churilov, ...
Neurology 90 (1), e67-e72, 2018
Mandates: National Health and Medical Research Council, Australia
Mortality in patients with psychogenic nonepileptic seizures
R Nightscales, L McCartney, C Auvrez, G Tao, S Barnard, CB Malpas, ...
Neurology 95 (6), e643-e652, 2020
Mandates: National Health and Medical Research Council, Australia
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
K Hynes, P Tarpey, LM Dibbens, MA Bayly, SF Berkovic, R Smith, ...
Journal of medical genetics 47 (3), 211-216, 2010
Mandates: US National Institutes of Health
The frontal lobe in absence epilepsy: EEG-fMRI findings
PW Carney, RAJ Masterton, D Flanagan, SF Berkovic, GD Jackson
Neurology 78 (15), 1157-1165, 2012
Mandates: US National Institutes of Health
Consistency of long-term subdural electrocorticography in humans
ES Nurse, SE John, DR Freestone, TJ Oxley, H Ung, SF Berkovic, ...
IEEE Transactions on Biomedical Engineering 65 (2), 344-352, 2017
Mandates: National Health and Medical Research Council, Australia, UK Medical Research�…
Genetics of epilepsy syndromes in families with photosensitivity
I Taylor, SF Berkovic, IE Scheffer
Neurology 80 (14), 1322-1329, 2013
Mandates: National Health and Medical Research Council, Australia
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11. 2–2q11. 2
L Henden, S Freytag, Z Afawi, S Baldassari, SF Berkovic, F Bisulli, ...
Human genetics 135, 1117-1125, 2016
Mandates: National Health and Medical Research Council, Australia
Association of short-term heart rate variability and sudden unexpected death in epilepsy
S Sivathamboo, D Friedman, J Laze, R Nightscales, Z Chen, L Kuhlmann, ...
Neurology 97 (24), e2357-e2367, 2021
Mandates: National Health and Medical Research Council, Australia
Familial mesial temporal lobe epilepsy and the borderland of d�j� vu
P Perucca, DE Crompton, ST Bellows, AM McIntosh, T Kalincik, ...
Annals of Neurology 82 (2), 166-176, 2017
Mandates: National Health and Medical Research Council, Australia
Gain‐of‐function HCN2 variants in genetic epilepsy
M Li, S Maljevic, AM Phillips, S Petrovski, MS Hildebrand, R Burgess, ...
Human mutation 39 (2), 202-209, 2018
Mandates: National Health and Medical Research Council, Australia, German Research�…
A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2
C Perandones, FE Micheli, LA Pellene, MA Bayly, SF Berkovic, ...
Movement Disorders 27 (9), 1200-1201, 2012
Mandates: National Health and Medical Research Council, Australia
Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases
RD Bagnall, DE Crompton, C Cutmore, BM Regan, SF Berkovic, ...
Neurology 83 (11), 1018-1021, 2014
Mandates: National Health and Medical Research Council, Australia
Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26
KM Klein, CJ Bromhead, KR Smith, CJ O'Callaghan, SJ Corcoran, ...
Neurology 80 (16), 1485-1493, 2013
Mandates: Australian Research Council, National Health and Medical Research Council�…
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