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| 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 | 601 | 2002 |
| SCN1A mutations and epilepsy JC Mulley, IE Scheffer, S Petrou, LM Dibbens, SF Berkovic, LA Harkin Human mutation 25 (6), 535-542, 2005 | 459 | 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 | 437 | 2004 |
| 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 | 412 | 2001 |
| 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 | 409 | 2012 |
| 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 | 347 | 2007 |
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| 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 | 318 | 2015 |
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| 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 | 302 | 2013 |
| Human epilepsies: interaction of genetic and acquired factors SF Berkovic, JC Mulley, IE Scheffer, S Petrou Trends in neurosciences 29 (7), 391-397, 2006 | 287 | 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 | 274 | 2014 |
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| Channelopathies as a genetic cause of epilepsy JC Mulley, IE Scheffer, S Petrou, SF Berkovic Current opinion in neurology 16 (2), 171-176, 2003 | 267 | 2003 |
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| 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 | 253 | 2016 |
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