Neonatal vitamin-responsive epileptic encephalopathiesSidney 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...
Redefining outcome of first seizures by acute illnessEmily 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...
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patientsCraig 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...
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registryGregory 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...
Hospital pharmacy and emergency department availability of parenteral pyridoxineSidney 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...
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatmentSidney 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...
Pyridoxine-dependent seizures: findings from recent studies pose new questionsSidney 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
....
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...