| Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018 | 1545 | 2018 |
| Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, ... Nature genetics 44 (11), 1188-1190, 2012 | 438 | 2012 |
| Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies Nature communications 9 (1), 5269, 2018 | 359 | 2018 |
| A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ... Nature genetics 47 (1), 39-46, 2015 | 334 | 2015 |
| Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies International League Against Epilepsy Consortium on Complex Epilepsies The Lancet Neurology 13 (9), 893-903, 2014 | 302 | 2014 |
| A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation M Puskarjov, P Seja, SE Heron, TC Williams, F Ahmad, X Iona, KL Oliver, ... EMBO reports 15 (6), 723-729, 2014 | 207 | 2014 |
| Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16. 1, 2q22. 3 and 17q21. 32 Epicure Consortium, EMINet Consortium, M Steffens, C Leu, AK Ruppert, ... Human molecular genetics 21 (24), 5359-5372, 2012 | 158 | 2012 |
| A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ... The American Journal of Human Genetics 87 (3), 371-375, 2010 | 147 | 2010 |
| The genetic landscape of epilepsy of infancy with migrating focal seizures R Burgess, S Wang, A McTague, KE Boysen, X Yang, Q Zeng, KA Myers, ... Annals of neurology 86 (6), 821-831, 2019 | 136 | 2019 |
| TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ... Neurology 87 (1), 77-85, 2016 | 136 | 2016 |
| Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties KL Oliver, S Franceschetti, CJ Milligan, M Muona, SA Mandelstam, ... Annals of neurology 81 (5), 677-689, 2017 | 82 | 2017 |
| GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture Nature genetics 55 (9), 1471-1482, 2023 | 74 | 2023 |
| Genes4Epilepsy: an epilepsy gene resource KL Oliver, IE Scheffer, MF Bennett, BE Grinton, M Bahlo, SF Berkovic Epilepsia 64 (5), 1368-1375, 2023 | 66 | 2023 |
| De novo mutations in PPP3CA cause severe neurodevelopmental disease with seizures CT Myers, N Stong, EI Mountier, KL Helbig, S Freytag, JE Sullivan, ... The American Journal of Human Genetics 101 (4), 516-524, 2017 | 62 | 2017 |
| Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes C Courage, KL Oliver, EJ Park, JM Cameron, KA Grabińska, M Muona, ... The American Journal of Human Genetics 108 (4), 722-738, 2021 | 58 | 2021 |
| Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia JA Damiano, Z Afawi, M Bahlo, M Mauermann, A Misk, T Arsov, KL Oliver, ... Human molecular genetics 24 (16), 4483-4490, 2015 | 50 | 2015 |
| TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation Z Afawi, S Mandelstam, AD Korczyn, S Kivity, S Walid, A Shalata, ... Epilepsy research 105 (1-2), 240-244, 2013 | 49 | 2013 |
| ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies CA Bennett, S Petrovski, KL Oliver, SF Berkovic Neurology: Genetics 3 (4), e163, 2017 | 45 | 2017 |
| Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) SF Berkovic, JF Staropoli, S Carpenter, KL Oliver, S Kmoch, ... Neurology 87 (6), 579-584, 2016 | 44 | 2016 |
| Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features SF Berkovic, KL Oliver, L Canafoglia, P Krieger, JA Damiano, ... Brain 142 (1), 59-69, 2019 | 42 | 2019 |
Samuel F BerkovicLaureate Professor, University of MelbourneE-mail megerősítve itt: unimelb.edu.au
