Syncopes and other paroxysmal eventsJohn 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...
- 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
....
Anoxic-epileptic seizures: home video recordings of epileptic seizures induced by syncopesJohn 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)..
- 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...
- 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...
- 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
- 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...
- Ocular compression a century on: time for a thumbs-off approach?
John B P Stephenson
Epileptic Disord 10:151-5. 2008
- 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
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian 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...
- 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...
- Ictal bradycardia: elusive references, elusive danger
John B P Stephenson
Eur J Paediatr Neurol 7:425-6; author reply 426. 2003
- 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...
- 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...
- 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
- 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...
