Steven Petrou

Overview

Best Publications

• Mutant GABA A receptor γ2-subunit in childhood absence epilepsy and febrile seizures

  Robyn H. Wallace;Carla Marini;Steven Petrou;Louise A. Harkin;Louise A. Harkin

  1007
  Citations

• Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus

  Louise A Harkin;Louise A Harkin;David Nicholas Bowser;Leanne M Dibbens;Leanne M Dibbens;Rita Singh

  582
  Citations

• SCN1A mutations and epilepsy.

  John C. Mulley;Ingrid E. Scheffer;Steven Petrou;Leanne M. Dibbens;Leanne M. Dibbens

  449
  Citations

• Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

  Sarah E Heron;Katherine R Smith;Katherine R Smith;Melanie Bahlo;Melanie Bahlo;Lino Nobili

  442
  Citations

• GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

  Leanne M. Dibbens;Hua-Jun Feng;Michaella C. Richards;Louise A. Harkin

  434
  Citations

• A GLU (496) TO ALA POLYMORPHISM LEADS TO LOSS OF FUNCTION OF THE HUMAN P2X7 RECEPTOR

  Ben J. Gu;Weiyi Zhang;Rebecca A. Worthington;Ronald Sluyter

  402
  Citations

• Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

  Ingrid E. Scheffer;Louise A. Harkin;Bronwyn E. Grinton;Leanne M. Dibbens

  348
  Citations

• A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

  Mikko Muona;Samuel F. Berkovic;Leanne M. Dibbens;Karen L. Oliver

  341
  Citations

• Progress in Understanding and Treating SCN2A-Mediated Disorders

  Stephan J. Sanders;Arthur J. Campbell;Jeffrey R. Cottrell;Rikke S. Moller

  316
  Citations

• Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

  Julia Oyrer;Snezana Maljevic;Ingrid E. Scheffer;Samuel F. Berkovic

  310
  Citations

• GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

  Gemma L Carvill;Sarah Weckhuysen;Sarah Weckhuysen;Jacinta M McMahon;Corinna Hartmann;Corinna Hartmann

  302
  Citations

• Sequencing studies in human genetics: design and interpretation

  David B. Goldstein;Andrew Allen;Jonathan Keebler;Elliott H. Margulies

  301
  Citations

• KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

  Carol J. Milligan;Melody Li;Elena V. Gazina;Sarah E. Heron

  296
  Citations

• Channelopathies as a genetic cause of epilepsy.

  John C. Mulley;Ingrid E. Scheffer;Steven Petrou;Samuel F. Berkovic

  282
  Citations

• De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

  Candace T. Myers;Jacinta M. McMahon;Amy L. Schneider;Slavé Petrovski;Slavé Petrovski

  279
  Citations

• Human epilepsies: interaction of genetic and acquired factors

  Samuel F. Berkovic;John C. Mulley;Ingrid E. Scheffer;Steven Petrou

  257
  Citations

• Mechanisms of human inherited epilepsies

  Christopher A. Reid;Samuel F. Berkovic;Steven Petrou

  256
  Citations

• A roadmap for precision medicine in the epilepsies

  S. F. Berkovic;I. E. Scheffer;S. Petrou;N. Delanty

  251
  Citations

• P2X7 Receptor Cell Surface Expression and Cytolytic Pore Formation Are Regulated by a Distal C-terminal Region

  Megan L. Smart;Ben Gu;Rekha G. Panchal;James Wiley

  243
  Citations

• Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

  Gemma L. Carvill;Jacinta M. McMahon;Amy Schneider;Matthew Zemel

  237
  Citations

• An Ile-568 to Asn Polymorphism Prevents Normal Trafficking and Function of the Human P2X7 Receptor

  James S. Wiley;Lan-Phuong Dao-Ung;Changping Li;Anne N. Shemon

  225
  Citations

• Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

  Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

  33
  Citations