John B P Stephenson

Summary

Publications

  1. ncbi request reprint Autonomic seizures in 18q- syndrome
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow G3 8SJ, Scotland, UK
    Brain Dev 27:125-6. 2005
  2. doi request reprint Syncopes and other paroxysmal events
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, UK Electronic address
    Handb Clin Neurol 112:861-6. 2013
  3. doi request reprint Aicardi-Goutières syndrome (AGS)
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland, UK
    Eur J Paediatr Neurol 12:355-8. 2008
  4. ncbi request reprint Anoxic-epileptic seizures: home video recordings of epileptic seizures induced by syncopes
    John Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, United Kingdom
    Epileptic Disord 6:15-9. 2004
  5. ncbi request reprint The movement disorders of Coffin-Lowry syndrome
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland G3 8SJ, UK
    Brain Dev 27:108-13. 2005
  6. ncbi request reprint Aicardi-Goutières syndrome--observations of the Glasgow school
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland, UK
    Eur J Paediatr Neurol 6:A67-70; discussion A37-9, A55-8, A65-6. 2002
  7. ncbi request reprint Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism
    Stewart Macleod
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK
    Brain Dev 27:118-24. 2005
  8. ncbi request reprint Ocular compression a century on: time for a thumbs-off approach?
    John B P Stephenson
    Epileptic Disord 10:151-5. 2008
  9. ncbi request reprint Mind-stretching faints
    Roland D Thijs
    Department of Neurology and Clinical Neurophysiology, Leiden University Medical Centre, Leiden, The Netherlands
    Epileptic Disord 9:418-23. 2007
  10. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007

Collaborators

Detail Information

Publications16

  1. ncbi request reprint Autonomic seizures in 18q- syndrome
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow G3 8SJ, Scotland, UK
    Brain Dev 27:125-6. 2005
    ..As in the adult patient referred to, the seizures ceased on carbamazepine. No systematic studies of incidence have been published, but autonomic epileptic seizures simulating non-epileptic syncopes may be a feature of 18q- syndrome...
  2. doi request reprint Syncopes and other paroxysmal events
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, UK Electronic address
    Handb Clin Neurol 112:861-6. 2013
    ..Other nonsyncopal nonepileptic paroxysmal disorders are described further in the text...
  3. doi request reprint Aicardi-Goutières syndrome (AGS)
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland, UK
    Eur J Paediatr Neurol 12:355-8. 2008
    ....
  4. ncbi request reprint Anoxic-epileptic seizures: home video recordings of epileptic seizures induced by syncopes
    John Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, United Kingdom
    Epileptic Disord 6:15-9. 2004
    ..This phenomenon is not considered in any international classification. (Published with videosequences)..
  5. ncbi request reprint The movement disorders of Coffin-Lowry syndrome
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland G3 8SJ, UK
    Brain Dev 27:108-13. 2005
    ..This unique combination of more than one non-epileptic movement disorder and epilepsy deserves further semiological and genetic study both for the patients with CLS and for the wider implications...
  6. ncbi request reprint Aicardi-Goutières syndrome--observations of the Glasgow school
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland, UK
    Eur J Paediatr Neurol 6:A67-70; discussion A37-9, A55-8, A65-6. 2002
  7. ncbi request reprint Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism
    Stewart Macleod
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK
    Brain Dev 27:118-24. 2005
    ..Chromosome studies should be ordered on all children with learning difficulties and epilepsy, and on children with atypical non-lesional epilepsy, even in the absence of learning difficulties or dysmorphism...
  8. ncbi request reprint Ocular compression a century on: time for a thumbs-off approach?
    John B P Stephenson
    Epileptic Disord 10:151-5. 2008
  9. ncbi request reprint Mind-stretching faints
    Roland D Thijs
    Department of Neurology and Clinical Neurophysiology, Leiden University Medical Centre, Leiden, The Netherlands
    Epileptic Disord 9:418-23. 2007
  10. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...
  11. ncbi request reprint Clinical diagnosis of syncopes (including so-called breath-holding spells) without electroencephalography or ocular compression
    John B P Stephenson
    J Child Neurol 22:502-8. 2007
    ..Several additional investigations of a primarily cardiological nature may be indicated in some cases, but a wait-and-see policy is usually to be preferred...
  12. ncbi request reprint Ictal bradycardia: elusive references, elusive danger
    John B P Stephenson
    Eur J Paediatr Neurol 7:425-6; author reply 426. 2003
  13. ncbi request reprint Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
    Ailsa McLellan
    Ninewells Hospital and Medical School, Dundee, Scotland
    Epilepsia 44:613-7. 2003
    ..Here we examined the phenotypes in two families, from the same ethnic and geographic backgrounds, with ADNFLE as a result of mutations in these two different subunits of CHRN...
  14. pmc Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
    Mark I Rees
    School of Medicine, University of Wales Swansea, Singleton Park, West Glamorgan SA2 8PP, UK
    Nat Genet 38:801-6. 2006
    ..SLC6A5 mutations result in defective subcellular GlyT2 localization, decreased glycine uptake or both, with selected mutations affecting predicted glycine and Na+ binding sites...
  15. ncbi request reprint Stuart Green's vignettes 5 and 6
    Thierry Deonna
    Departement of Medicochirurgical de Pediatrie, Unite de Neuropediatrie 1011, CHUV, Lausanne, Switzerland
    Eur J Paediatr Neurol 12:271-2. 2008
  16. ncbi request reprint Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Nat Genet 38:910-6. 2006
    ..Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation...