Követés
Steven Petrou
Steven Petrou
E-mail megerősítve itt: unimelb.edu.au
Cím
Hivatkozott rá
Hivatkozott rá
Év
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
10682001
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
6082002
SCN1A mutations and epilepsy
JC Mulley, IE Scheffer, S Petrou, LM Dibbens, SF Berkovic, LA Harkin
Human mutation 25 (6), 535-542, 2005
4722005
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
4422004
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
4382012
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
4112001
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
3602007
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
3432014
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
3322015
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
3222014
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
3132018
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
3062013
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
3042018
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
2882014
Human epilepsies: interaction of genetic and acquired factors
SF Berkovic, JC Mulley, IE Scheffer, S Petrou
Trends in neurosciences 29 (7), 391-397, 2006
2872006
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
2772016
Channelopathies as a genetic cause of epilepsy
JC Mulley, IE Scheffer, S Petrou, SF Berkovic
Current opinion in neurology 16 (2), 171-176, 2003
2762003
Mechanisms of human inherited epilepsies
CA Reid, SF Berkovic, S Petrou
Progress in neurobiology 87 (1), 41-57, 2009
2672009
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
2412003
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, ...
The American Journal of Human Genetics 96 (5), 808-815, 2015
2362015
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