S M Gospe

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint Hospital pharmacy and emergency department availability of parenteral pyridoxine
    Sidney M Gospe
    Division of Pediatric Neurology, Department of Neurology, University of Washington, and Children s Hospital and Regional Medical Center, Seattle, WA 98105, USA
    Pediatr Emerg Care 21:586-8. 2005
  2. doi request reprint Exposure to environmental tobacco smoke during pregnancy in rats yields less effect on indices of brain cell number and size than does postnatal exposure
    Sidney M Gospe
    Department of Neurology, University of Washington and Seattle Children s Hospital, Seattle, WA, United States
    Reprod Toxicol 27:22-7. 2009
  3. ncbi request reprint Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment
    Sidney M Gospe
    Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, Seattle, WA 98105, USA
    Curr Opin Neurol 19:148-53. 2006
  4. pmc Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis
    S M Gospe
    Departments of Neurology, Pediatrics, Radiology, Nutrition, and Internal Medicine, University of California, Davis, California, USA
    Arch Dis Child 83:439-42. 2000
  5. ncbi request reprint Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A
    Nigel S Bamford
    Department of Neurology, University of Washington, and Seattle Children s Hospital, Seattle, WA 98195, USA
    Dev Med Child Neurol 51:408-11. 2009
  6. ncbi request reprint Nonfebrile illness seizures: a unique seizure category?
    Danielle M Zerr
    Department of Pediatrics, University of Washington, Seattle, Washington 98105, USA
    Epilepsia 46:952-5. 2005
  7. doi request reprint Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients
    Craig L Bennett
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, and Children s Hospital and Regional Medical Center, Seattle, Washington 98195 6320, USA
    Epilepsia 50:1167-75. 2009
  8. ncbi request reprint Toluene abuse embryopathy: longitudinal neurodevelopmental effects of prenatal exposure to toluene in rats
    S M Gospe
    Department of Neurology, University of California, Davis, USA
    Reprod Toxicol 12:119-26. 1998
  9. doi request reprint Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures
    Katerina Sadilkova
    Seattle Children s Research Institute, Seattle, WA 98101, United States
    J Neurosci Methods 184:136-41. 2009
  10. doi request reprint Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry
    Gregory J Basura
    School of Medicine, University of Washington, Seattle, WA, USA
    Eur J Pediatr 168:697-704. 2009

Collaborators

Detail Information

Publications17

  1. ncbi request reprint Hospital pharmacy and emergency department availability of parenteral pyridoxine
    Sidney M Gospe
    Division of Pediatric Neurology, Department of Neurology, University of Washington, and Children s Hospital and Regional Medical Center, Seattle, WA 98105, USA
    Pediatr Emerg Care 21:586-8. 2005
    ..These cases prompted the development of a survey to ascertain the availability of parenteral pyridoxine in the pharmacies and EDs of both children's and general hospitals in the United States...
  2. doi request reprint Exposure to environmental tobacco smoke during pregnancy in rats yields less effect on indices of brain cell number and size than does postnatal exposure
    Sidney M Gospe
    Department of Neurology, University of Washington and Seattle Children s Hospital, Seattle, WA, United States
    Reprod Toxicol 27:22-7. 2009
    ..Additional studies designed specifically to assess the risk of prenatal ETS exposure on brain development in non-human primates and other precocial species are warranted...
  3. ncbi request reprint Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment
    Sidney M Gospe
    Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, Seattle, WA 98105, USA
    Curr Opin Neurol 19:148-53. 2006
    ..This paper discusses recent clinical, biochemical and genetic studies and how the findings should change our approach in evaluating young patients with antiepileptic drug-resistant seizures...
  4. pmc Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis
    S M Gospe
    Departments of Neurology, Pediatrics, Radiology, Nutrition, and Internal Medicine, University of California, Davis, California, USA
    Arch Dis Child 83:439-42. 2000
    ..The patient has developed neither liver failure nor parkinsonism. The pathophysiological bases of this multiorgan system disorder are described...
  5. ncbi request reprint Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A
    Nigel S Bamford
    Department of Neurology, University of Washington, and Seattle Children s Hospital, Seattle, WA 98195, USA
    Dev Med Child Neurol 51:408-11. 2009
    ..e. age >8y) should be examined for signs of peripheral neuropathy, particularly when presenting with a 'waddling' or broad-based gait...
  6. ncbi request reprint Nonfebrile illness seizures: a unique seizure category?
    Danielle M Zerr
    Department of Pediatrics, University of Washington, Seattle, Washington 98105, USA
    Epilepsia 46:952-5. 2005
    ..To describe the clinical characteristics of children with a first-time nonfebrile seizure in the setting of mild illness and to test the hypothesis that these seizures are associated with illness characterized by diarrhea...
  7. doi request reprint Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients
    Craig L Bennett
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, and Children s Hospital and Regional Medical Center, Seattle, Washington 98195 6320, USA
    Epilepsia 50:1167-75. 2009
    ..Mutations of the antiquitin gene (ALDH7A1) are now recognized as the molecular basis of cases of neonatal-onset PDS...
  8. ncbi request reprint Toluene abuse embryopathy: longitudinal neurodevelopmental effects of prenatal exposure to toluene in rats
    S M Gospe
    Department of Neurology, University of California, Davis, USA
    Reprod Toxicol 12:119-26. 1998
    ..Therefore, whereas the effects of toluene administered prior to the time of the brain growth spurt were, for the most part, reversible, these exposures resulted in reduced forebrain myelination that may be permanent...
  9. doi request reprint Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures
    Katerina Sadilkova
    Seattle Children s Research Institute, Seattle, WA 98101, United States
    J Neurosci Methods 184:136-41. 2009
    ..The stability study showed that alpha-AASA and P6C were unstable even at -20 degrees C. A careful sample handling with immediate freezing and testing is required for reliable result...
  10. doi request reprint Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry
    Gregory J Basura
    School of Medicine, University of Washington, Seattle, WA, USA
    Eur J Pediatr 168:697-704. 2009
    ..Patients previously diagnosed with PDS by clinical criteria should also receive confirmatory testing...
  11. ncbi request reprint Neonatal vitamin-responsive epileptic encephalopathies
    Sidney M Gospe
    Departments of Neurology and Pediatrics, the Center on Human Development and Disability, University of Washington, Seattle, WA, USA
    Chang Gung Med J 33:1-12. 2010
    ..This review discusses our current understanding of these three neonatal vitamin-responsive epileptic encephalopathies and a diagnostic and treatment protocol is proposed...
  12. ncbi request reprint Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
    C L Bennett
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington and Children s Hospital and Regional Medical Center, Seattle, USA
    Neurogenetics 6:143-9. 2005
    ..In this study, we establish genetic heterogeneity for PDS, catalog 21 genes within the originally defined PDS interval, and identify additional recombinations that indicate a higher priority interval, containing just 11 genes...
  13. ncbi request reprint Pyridoxine-dependent seizures: findings from recent studies pose new questions
    Sidney M Gospe
    Division of Pediatric Neurology, Department of Neurology, University of Washington, and Children s Hospital and Regional Medical Center, Seattle, WA 98105, USA
    Pediatr Neurol 26:181-5. 2002
    ....
  14. ncbi request reprint Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene
    S M Gospe
    Department of Neurology, School of Medicine, University of California, Davis
    Neurology 39:1277-80. 1989
    ..Other patients with deletions in this region may have truncated dystrophin without clinical signs of progressive muscle disease...
  15. ncbi request reprint Variable presentation of nemaline myopathy: novel mutation of alpha actin gene
    Anthony A Bouldin
    Division of Pediatric Neurology, Department of Neurology, University of Washington, Children s Hospital and Regional Medical Center, Seattle, Washington 98105, USA
    Muscle Nerve 35:254-8. 2007
    ..This pair illustrates the clinical variability of nemaline myopathy, highlighting the possible influence of environmental and epigenetic factors. Implications for the current classification system and prognosis are discussed...
  16. ncbi request reprint Pyridoxine-dependent seizures and cognition in adulthood
    Kathleen Baynes
    Department of Neurology, Center for Neurosciences, University of California, Davis, CA, USA
    Dev Med Child Neurol 45:782-5. 2003
    ..The similarity of the structural changes on MRI and the cognitive profile of this patient to those of others reported in the literature suggest that the underlying mechanism for both may be the same...
  17. ncbi request reprint Seizures, syncope, or breath-holding presenting to the pediatric neurologist--when is the etiology a life-threatening arrhythmia?
    Walter C Allan
    Foundation for Blood Research, Scarborough, ME 04074, USA
    Semin Pediatr Neurol 12:2-9. 2005
    ..This approach requires knowledge of the distribution of the corrected QT interval in long QT syndrome...