John C. Mulley

Overview

Best Publications

• GERMLINE MUTATIONS IN THE EXTRACELLULAR DOMAINS OF THE 55 KDA TNF RECEPTOR, TNFR1, DEFINE A FAMILY OF DOMINANTLY INHERITED AUTOINFLAMMATORY SYNDROMES

  Michael F McDermott;Ivona Aksentijevich;Jérôme Galon;Elizabeth M McDermott

  1633
  Citations

• Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

  Robyn H. Wallace;Dao W. Wang;Rita Singh;Rita Singh;Ingrid E. Scheffer;Ingrid E. Scheffer;Ingrid E. Scheffer

  1387
  Citations

• A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

  Ortrud K. Steinlein;John C. Mulley;Peter Propping;Robyn H. Wallace;Robyn H. Wallace

  1369
  Citations

• Fragile X genotype characterized by an unstable region of DNA

  S. Yu;M. Pritchard;E. Kremer;M. Lynch

  1021
  Citations

• 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

• The spectrum of SCN1A-related infantile epileptic encephalopathies

  Louise A Harkin;Jacinta M McMahon;Xenia Iona;Leanne Dibbens;Leanne Dibbens

  591
  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

• KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

  Sarah Weckhuysen;Simone Mandelstam;Arvid Suls;Dominique Audenaert;Dominique Audenaert

  574
  Citations

• PAK3 mutation in nonsyndromic X-linked mental retardation

  Kristina M. Allen;Joseph G. Gleeson;Joseph G. Gleeson;Shubha Bagrodia;Michael W. Partington

  571
  Citations

• Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

  Petter Strømme;Marie E. Mangelsdorf;Marie E. Mangelsdorf;Marie A. Shaw;Karen M. Lower;Karen M. Lower

  503
  Citations

• Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

  R.H. Wallace;R.H. Wallace;I.E. Scheffer;S. Barnett;M. Richards

  470
  Citations

• X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

  Leanne M. Dibbens;Leanne M. Dibbens;Patrick S. Tarpey;Kim Hynes;Kim Hynes;Marta A. Bayly

  467
  Citations

• Sodium-channel defects in benign familial neonatal-infantile seizures

  Sarah E Heron;Kathryn M Crossland;Eva Andermann;Hilary A Phillips

  460
  Citations

• Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2

  H.A. Phillips;I.E. Scheffer;S.F. Berkovic;G.E. Hollway;G.E. Hollway

  456
  Citations

• SCN1A mutations and epilepsy.

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

  449
  Citations

• A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

  M Muenke;K W Gripp;D M McDonald-McGinn;K Gaudenz

  448
  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

• Mutations in DEPDC5 cause familial focal epilepsy with variable foci

  Leanne M Dibbens;Boukje de Vries;Simona Donatello;Sarah E Heron

  401
  Citations

• CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.

  Hilary A. Phillips;Isabelle Favre;Martin Kirkpatrick;Sameer M. Zuberi

  383
  Citations

• Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

  Samuel F. Berkovic;Sarah E. Heron;Lucio Giordano;Carla Marini

  361
  Citations