Sidney M Gospe

Summary

Publications

  1. 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
  2. pmc Redefining outcome of first seizures by acute illness
    Emily T Martin
    Center for Clinical and Translational Research, Seattle Children s Research Institute, Seattle, Washington, USA
    Pediatrics 126:e1477-84. 2010
  3. 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
  4. pmc Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy
    Laura A Jansen
    Department of Neurology, University of Washington, Seattle, WA Seattle Children s Research Institute, Seattle, WA
    Ann Neurol 75:22-32. 2014
  5. 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
  6. ncbi request reprint Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS
    Sunhee Jung
    Seattle Children s Research Institute, Seattle, WA, USA
    Mol Genet Metab 110:237-40. 2013
  7. 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
  8. 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
  9. doi request reprint Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy
    Heather C Mefford
    Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children s Hospital, Seattle, Washington 98105, USA
    Am J Med Genet A 158:3190-5. 2012
  10. 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

Collaborators

Detail Information

Publications11

  1. 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...
  2. pmc Redefining outcome of first seizures by acute illness
    Emily T Martin
    Center for Clinical and Translational Research, Seattle Children s Research Institute, Seattle, Washington, USA
    Pediatrics 126:e1477-84. 2010
    ..Seizures are common in children, but the causes and recurrence risk for children with a nonfebrile first seizure remain poorly understood...
  3. 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...
  4. pmc Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy
    Laura A Jansen
    Department of Neurology, University of Washington, Seattle, WA Seattle Children s Research Institute, Seattle, WA
    Ann Neurol 75:22-32. 2014
    ..In this study, we analyzed tissue from a child with PDE as well as control human and murine brain to determine the normal distribution of antiquitin, its distribution in PDE, and associated brain malformations...
  5. 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...
  6. ncbi request reprint Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS
    Sunhee Jung
    Seattle Children s Research Institute, Seattle, WA, USA
    Mol Genet Metab 110:237-40. 2013
    ..At room temperature, α-AASA and P6C in DBS appeared stable for 3 days and then decreased by up to 70% after 14 days but remained much higher than control, indicating newborn screening for PDE is feasible...
  7. 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...
  8. 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...
  9. doi request reprint Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy
    Heather C Mefford
    Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children s Hospital, Seattle, Washington 98105, USA
    Am J Med Genet A 158:3190-5. 2012
    ..This patient's history emphasizes the utility of array CGH in the evaluation of children with epilepsy of unknown etiology...
  10. 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...
  11. 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
    ....