| Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures RH Wallace, C Marini, S Petrou, LA Harkin, DN Bowser, RG Panchal, ... Nature genetics 28 (1), 49-52, 2001 | 1069 | 2001 |
| Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus LA Harkin, DN Bowser, LM Dibbens, R Singh, F Phillips, RH Wallace, ... The American Journal of Human Genetics 70 (2), 530-536, 2002 | 605 | 2002 |
| SCN1A mutations and epilepsy JC Mulley, IE Scheffer, S Petrou, LM Dibbens, SF Berkovic, LA Harkin Human mutation 25 (6), 535-542, 2005 | 467 | 2005 |
| GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies LM Dibbens, HJ Feng, MC Richards, LA Harkin, BL Hodgson, D Scott, ... Human molecular genetics 13 (13), 1315-1319, 2004 | 446 | 2004 |
| 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 | 430 | 2012 |
| A Glu-496 to Ala polymorphism leads to loss of function of the human P2X7 receptor BJ Gu, W Zhang, RA Worthington, R Sluyter, P Dao-Ung, S Petrou, ... Journal of Biological Chemistry 276 (14), 11135-11142, 2001 | 411 | 2001 |
| Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations IE Scheffer, LA Harkin, BE Grinton, LM Dibbens, SJ Turner, MA Zielinski, ... Brain 130 (1), 100-109, 2007 | 352 | 2007 |
| De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 332 | 2014 |
| 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 | 331 | 2015 |
| GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome GL Carvill, S Weckhuysen, JM McMahon, C Hartmann, RS Møller, ... Neurology 82 (14), 1245-1253, 2014 | 324 | 2014 |
| Sequencing studies in human genetics: design and interpretation DB Goldstein, A Allen, J Keebler, EH Margulies, S Petrou, S Petrovski, ... Nature Reviews Genetics 14 (7), 460-470, 2013 | 307 | 2013 |
| Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies J Oyrer, S Maljevic, IE Scheffer, SF Berkovic, S Petrou, CA Reid Pharmacological reviews 70 (1), 142-173, 2018 | 302 | 2018 |
| Progress in understanding and treating SCN2A-mediated disorders SJ Sanders, AJ Campbell, JR Cottrell, RS Moller, FF Wagner, ... Trends in neurosciences 41 (7), 442-456, 2018 | 298 | 2018 |
| Human epilepsies: interaction of genetic and acquired factors SF Berkovic, JC Mulley, IE Scheffer, S Petrou Trends in neurosciences 29 (7), 391-397, 2006 | 291 | 2006 |
| KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine CJ Milligan, M Li, EV Gazina, SE Heron, U Nair, C Trager, CA Reid, ... Annals of neurology 75 (4), 581-590, 2014 | 287 | 2014 |
| Channelopathies as a genetic cause of epilepsy JC Mulley, IE Scheffer, S Petrou, SF Berkovic Current opinion in neurology 16 (2), 171-176, 2003 | 274 | 2003 |
| De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ... The American Journal of Human Genetics 99 (2), 287-298, 2016 | 269 | 2016 |
| Mechanisms of human inherited epilepsies CA Reid, SF Berkovic, S Petrou Progress in neurobiology 87 (1), 41-57, 2009 | 262 | 2009 |
| P2X7 receptor cell surface expression and cytolytic pore formation are regulated by a distal C-terminal region ML Smart, B Gu, RG Panchal, J Wiley, B Cromer, DA Williams, S Petrou Journal of Biological Chemistry 278 (10), 8853-8860, 2003 | 240 | 2003 |
| An Ile-568 to Asn polymorphism prevents normal trafficking and function of the human P2X7 receptor JS Wiley, LP Dao-Ung, C Li, AN Shemon, BJ Gu, ML Smart, SJ Fuller, ... Journal of Biological Chemistry 278 (19), 17108-17113, 2003 | 234 | 2003 |
