J. Stephenson

发表

Anoxic-epileptic seizures: home video recordings of epileptic seizures induced by syncopes.

S. Zuberi, J. Stephenson, G. Breningstall, 2004, Epileptic disorders : international epilepsy journal with videotape.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

C. Ponting, D. Bonthron, E. Bertini, 2006, Nature Genetics.

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

A. Spauschus, D. Kullmann, C. Panayiotopoulos, 2000, Annals of neurology.

Cortical plasticity induced by different degrees of peripheral nerve injuries: a rat functional magnetic resonance imaging study under 9.4 Tesla

J. Hyde, C. Pawela, Rupeng Li, 2013, Journal of Brachial Plexus and Peripheral Nerve Injury.

Anoxic seizures: self-terminating syncopes.

J. Stephenson, 2001, Epileptic disorders : international epilepsy journal with videotape.

Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

I. Scheffer, J. Tolmie, S. Berkovic, 2003, Epilepsia.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

Epileptic Syndromes in Infancy, Childhood and Adolescence

J. Stephenson, 2004 .

SEIZURES AND INTELLECTUAL DISABILITY ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX IN THE WEST OF SCOTLAND

J. Stephenson, C. Shepherd, J. Stephenson, 1992, Developmental medicine and child neurology.

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism

J. Tolmie, S. Zuberi, J. Stephenson, 2005, Brain and Development.

The Prader-Willi syndrome.

J. Stephenson, S. Greene, M. Donaldson, 1994, Archives of disease in childhood.

Reflex anoxic seizures ('white breath-holding'): nonepileptic vagal attacks.

J. Stephenson, 1978, Archives of disease in childhood.

Autonomic seizures in 18q- syndrome

J. Stephenson, 2005, Brain and Development.

Mind-stretching faints.

J. Stephenson, W. Wieling, R. Thijs, 2007, Epileptic disorders : international epilepsy journal with videotape.

Handbook of Neurological Investigations in Children

M. King, J. Stephenson, 1989 .

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)

C. Fertleman, J. Aicardi, V. Wong, 2007, Neurology.

Primary Small Bowel Ganglioneuroblastoma and ‘Friedreich's Ataxia’

H. Barr, J. Stephenson, 1987, Journal of the Royal Society of Medicine.

Phenylketonuria: A Reassessment of Mass Infant Screening by Napkin Test*

J. Stephenson, M. McBean, 1967, British medical journal.

Bile acid analyses in “pseudo-Zellweger” syndrome; clues to the defect in peroxisomal β-oxidation

R. Wanders, R. Schutgens, G. Besley, 1988, Journal of Inherited Metabolic Disease.

Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.

M. King, J. Stephenson, C. Gummer, 1984, Journal of medical genetics.

Anoxic-epileptic seizures: observational study of epileptic seizures induced by syncopes

S. Zuberi, J. Stephenson, I. Horrocks, 2005, Archives of Disease in Childhood.

Cardiac pacing for severe childhood neurally mediated syncope with reflex anoxic seizures

J. Norrie, J. Stephenson, K. McLeod, 1999, Heart.

Fetal and Neonatal Brain Injury: Mechanisms, Management and the Risks of Practice

J. Stephenson, 2003 .

Rett's syndrome in the west of Scotland.

J. Stephenson, A. Kerr, 1985, British medical journal.

Aicardi-Goutières syndrome (AGS).

J. Stephenson, 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Paroxysmal nonepileptic disorders: differential diagnosis of epilepsy

S. Zuberi, J. Stephenson, W. Whitehouse, 2004 .

Uraemia as a determinant of convulsions in acute infantile hypernatraemia

J. Stephenson, Glasgow Stephenson, 1971, Archives of disease in childhood.

Vigabatrin for startle-disease with altered cerebrospinal-fluid free gammaaminobutyric acid

J. Stephenson, 1992, The Lancet.

A novel pattern of oculocerebral malformation

W. R. Lee, J. Tolmie, R. Arngrímsson, 1997, The British journal of ophthalmology.

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

A. Spauschus, D. Kullmann, J. Tolmie, 1999, Brain : a journal of neurology.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

WHOOPING-COUGH VACCINATION FOR BRAIN-INJURED INFANTS

J. Stephenson, 1977, The Lancet.

Hemimegalencephaly--a case for hemispherectomy?

S. Galbraith, M. King, J. Stephenson, 1985, Neuropediatrics.

Diagnosis of Phenylketonuria (Phenylalanine Hydroxylase Deficiency, Temporary and Permanent)*

J. Stephenson, M. McBean, 1967, British medical journal.

Genetic aspects of tuberous sclerosis in the west of Scotland.

J B Stephenson, J. Sampson, J. Stephenson, 1989, Journal of medical genetics.

The movement disorders of Coffin–Lowry syndrome

J. Tolmie, J. Falconer, S. Zuberi, 2005, Brain and Development.

Hereditary coproporphyria and epilepsy.

M. Brodie, J. Stephenson, M. Moore, 1977, Archives of disease in childhood.

Pyridoxine responsive epilepsy: expanded pyridoxine dependency?

J. Stephenson, K. Byrne, 1983, Archives of disease in childhood.

Inherited peroxisomal disorders involving the nervous system.

J. Stephenson, 1988, Archives of disease in childhood.

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

M. Owen, Ian Duguid, R. Shiang, 2006, Nature Genetics.

Hyperekplexia: Stiffness, startle and syncope

R. Harvey, J. Stephenson, M. Rees, 2010, Journal of Pediatric Neurology.

Treatment of classical phenylketonuria.

J. Stephenson, M. McBean, M. Stephenson, 1968, Archives of disease in childhood.

Atropine treatment of reflex anoxic seizures.

J. Stephenson, R. Mcwilliam, 1984, Archives of disease in childhood.

Hyperventilation in the awake state: potentially treatable component of Rett syndrome.

D. Southall, J. Stephenson, A. Kerr, 1988, Archives of disease in childhood.

The hands, and the mind, pre- and post-regression in rett syndrome

J. Stephenson, A. Kerr, J. Montague, 1987, Brain and Development.

Whooping-cough immunisation

J. Stephenson, 1977, British medical journal.

A bifunctional protein with deficient enzymic activity: Identification of a new peroxisomal disorder using novel methods to measure the peroxisomal β-oxidation enzyme activities

R. Wanders, R. Schutgens, P. Clayton, 1990, Journal of Inherited Metabolic Disease.

Prolonged intravenous use of chlormethiazole (Heminevrin)

J. Stephenson, L. Low, K. Goel, 1980, British medical journal.

Porencephaly and optic hypoplasia in neonatal isoimmune thrombocytopenia.

J. Stephenson, R. Mcwilliam, T. Evans, 1989, Archives of disease in childhood.

Gratification disorder (“infantile masturbation”): a review

J. Stephenson, A. Nechay, L. M. Ross, 2004, Archives of Disease in Childhood.

Points: Absolute contraindications to pertussis immunisation?

J. Stephenson, 1983 .

Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.

M. King, J. Stephenson, J. Dudgeon, 1984, Archives of disease in childhood.

Tay-Sachs Disease: Screening and Prevention

J. Stephenson, 1979 .

Drug-Induced Neurological Disorders (2nd edn)

J. Stephenson, 2003 .

Movement Disorders in Children: A Clinical Update with Video Recordings, N. Nardocci, E. Fernandes-Alvarez (Eds.), Mariani Foundation Paediatric Neurology, vol. 17, John Libbey Eurotext, 2007, Hardback, 192pp., €60, ISBN:9782742006571

J. Stephenson, 2008 .

Failure of phenobarbitone to prevent febrile convulsions

R. W. Logan, J. Stephenson, J. Heckmatt, 1976 .

The changing clinical pattern of Reye's syndrome 1982-1990.

J. Stephenson, A. Mowat, L. Newton, 1996, Archives of disease in childhood.

Bath-induced paroxysmal disorders in infancy.

J. Stephenson, A. Nechay, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Phosphine poisoning by proxy

J. Stephenson, 2002, The Lancet.

THE NEUROLOGICAL EXAMINATION OF THE CHILD WITH MINOR NERVOUS DYSFUNCTION

J. Stephenson, 1971 .

Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?

J. Stephenson, R. Mcwilliam, D. Doyle, 1985, Archives of disease in childhood.

Spastic hemiparesis and presumed prenatal embolisation.

J. Stephenson, D. Young, A. Asindi, 1988, Archives of disease in childhood.

Neurological Development in Infancy

J. Stephenson, J. B. P. Stephenson, 1977 .

The cerebellum and its disorders

J. Stephenson, John B.P. Stephenson, 2003 .

MENTAL RETARDATION: PRENATAL DIAGNOSIS AND INFANT ASSESSMENT

J. Stephenson, 1974 .

Diagnosis of Ketotic Hypoglycaemia of Childhood

B. Habbick, J. Stephenson, A. S. Mcneish, 1971, Archives of disease in childhood.

Epileptic seizures in general practice

J B P Stephenson, J. Stephenson, 1983 .

Differentiating Convulsive Syncope and Epilepsy

J. Stephenson, J. Stephenson, 1992, Annals of Internal Medicine.

Ocular compression a century on: time for a thumbs-off approach?

J. Stephenson, 2008, Epileptic disorders : international epilepsy journal with videotape.

Clinical Diagnosis of Syncopes (Including So-called Breath-Holding Spells) Without Electroencephalography or Ocular Compression

J. Stephenson, 2007, Journal of child neurology.

Syncopes and other paroxysmal events.

J. Stephenson, 2013, Handbook of clinical neurology.

Ocular compression in reflex anoxic seizures

J. Stephenson, 1978 .

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

C. Marsden, I. Scheffer, Í. Lopes-Cendes, 1998, American journal of human genetics.

Two types of febrile seizure: anoxic (syncopal) and epileptic mechanisms differentiated by oculocardiac reflex

J. Stephenson, 1978, British medical journal.

When not to do a lumbar puncture.

M. King, J. Stephenson, 1988, Archives of Disease in Childhood.

397 The clinical phenotype of a child with a novel calcium channel gene (CACNA1A) mutation associated with episodic ataxia type 2 and absence epilepsy

M. Hanna, S. Zuberi, J. Stephenson, 1999 .

Rett Syndrome - Clinical and Biological Aspects

J. Stephenson, 1994, Archives of disease in childhood.

PHENOBARBITONE IN THE PROPHYLAXIS OF FEBRILE CONVULSIONS

J. Stephenson, 1981, The Lancet.

In Memoriam: Professor Jean Aicardi (1926-2015).

J. Stephenson, 2016, Pediatric neurology.

Aicardi-Goutières syndrome--observations of the Glasgow school.

J. Stephenson, 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Aicardi's Epilepsy in Children, 3rd Edition

J. Stephenson, 2004 .

Normal electroencephalograms in idiopathic scoliosis.

J. Robb, J. Stephenson, A. N. Conner, 1986, Acta orthopaedica Scandinavica.

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

M. Owen, R. Snell, P. Schofield, 2001, Human Genetics.

Muscle ultrasound in the assessment of suspected neuromuscular disease in childhood

S. Zuberi, J. Stephenson, A. Hollman, 1999, Neuromuscular Disorders.

Correlation of electroencephalogram, respiration and movement in the Rett syndrome

D. Southall, M. Samuels, J. Stephenson, 1990, Brain and Development.

A study of the natural history of Rett syndrome in 23 girls.

J. Stephenson, A. Kerr, 1986, American journal of medical genetics. Supplement.

Epileptic Syndromes and their Treatment

J. Stephenson, 2010 .

Syncope and electroencephalography.

J. Stephenson, 2014, Brain : a journal of neurology.

A neurologist looks at neurological disease temporally related to DTP immunization.

J. Stephenson, 1988, The Tokai journal of experimental and clinical medicine.

Association of Joubert's syndrome with Leber's congenital amaurosis.

M. King, J. Stephenson, 1984, Archives of Neurology.

Cerebellar disorders in children (Clinics in Developmental Medicine No. 191–192)

J. Stephenson, 2012 .

Neonatal presentation of Prader-Willi syndrome.

J. Stephenson, 1992, American journal of diseases of children.

Diagnostic survey of infants referred for chromosome analysis.

J. Stephenson, 1980, British medical journal.

The cerebellum and its disorders

J. Stephenson, 2003 .

PROLONGED EXPIRATORY APNOEA IN CHILDREN

J. Stephenson, 1985, The Lancet.

Shaken Baby Syndrome

J. Stephenson, 2003, Journal of the Royal Society of Medicine.

Tuberous sclerosis: analysis of linkage to red cell and plasma protein markers.

J. Yates, J. Stephenson, J. M. Connor, 1987, Cytogenetics and cell genetics.

Depigmented hair. The earliest sign of tuberous sclerosis.

J. Stephenson, R. Mcwilliam, 1978, Archives of disease in childhood.

REVERSAL OF HYPNOSIS-INDUCED ANALGESIA BY NALOXONE

J. Stephenson, 1978, The Lancet.

The Epilepsies, C.P. Panayiotopoulos, in: Seizures, Syndromes and Management. Bladon Medical Publishing ((2005)), 541 pp.; Hardback plus CD ROM; £95, ISBN 1-904218-34-2

J. Stephenson, 2006 .

BRADYCARDIA, VENTRICULAR PAUSES, SYNCOPE, AND SPORTS

J. Staessen, A. Amery, R. Fagard, 1984, The Lancet.

Gratification disorder (“infantile masturbation”): a review

J. Stephenson, A. Nechay, L. M. Ross, 2004, Archives of Disease in Childhood.