Selected Scientific Papers Concerning Pyridoxine-Dependent Seizures . . .
Comprehensive Web-Based Review:
Gospe SM, Jr. Pyridoxine-dependent seizures, In: GeneReviews at GeneTests: Medical Genetics Information Resource (online database), December 2001, updated December 2003, December 2005, and June 2006. © University of Washington, Seattle. 1997-2006. Available at www.genetests.org
General Review Papers:
Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol. 2001;43:416-420.
Baxter P. Pyridoxine-dependent seizures: a clinical and biochemical conundrum. Biochim Biopphys Acta. 2003;1647:36-41. Abstract
Gospe SM, Jr. Current perspectives on pyridoxine-dependent seizures. J Pediatr. 1998;132:919-23. Abstract
Gospe SM, Jr. Pyridoxine-dependent seizures: findings from recent studies pose new questions. Pediatr Neurol. 2002;26:181-185. Abstract
Gospe SM, Jr. Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment. Curr Opin Neurol. 2006;19:148-153. Abstract
Haenggeli C-A, Girardin E, Paunier L. Pyridoxine-dependent seizures, clinical and therapeutic aspects. Eur J Pediatr. 1991;150:452-5. Abstract
Clinical Descriptions, Demographics and Case Reports:
Bankier A, Turner M, Hopkins IJ. Pyridoxine dependent seizures--a wider clinical spectrum.Arch Dis Child. 1983;58:415-8. Abstract
Baxter P, Griffiths P, Kelly T, Gardner-Medwin D. Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol. 1996;38:998-1006. Abstract
Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child. 1999;81:431-3. Abstract
Baynes K, Farias ST, Gospe SM Jr. Pyridoxine-dependent seizures and cognition in adulthood. Dev Med Child Neurol. 2003;45:782-5. Abstract
Coker SB. Postneonatal vitamin B6-dependent epilepsy. Pediatrics. 1992;90:221-3. Abstract
Goutières F, Aicardi J. Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. Ann Neurol. 1985;17:117-20. Abstract
Hunt AD, Stokes J, McCrory WW, Stroud HH. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics. 1954;13:140-5.
Ohtsuka Y, Hattori J, Ishida T, Ogino T, Oka E. Long-term follow-up of an individual with vitamin B6-dependent seizures. Dev Med Child Neurol. 1999;41:203-6. Abstract
Risks of Pyridoxine:
Bass NE, Wyllie E, Cohen B, Joseph SA Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion. J Child Neurol. 1996;11:422-4. Abstract
Kroll JS. Pyridoxine for neonatal seizures: an unexpected danger. Dev Med Child Neurol. 1985;27:377-9. Abstract
McLachlan RS, Brown WF. Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. Can J Neurol Sci. 1995;22:50-1. Abstract
EEG Findings:
Mikati MA, Trevathan E, Krishnamoorthy KS, Lombroso CT. Pyridoxine-dependent epilepsy: EEG investigation and long-term follow-up. Electroencephalogr Clin Neurophysiol. 1991;78:215-21. Abstract
Nabbout R; Soufflet C; Plouin P; Dulac O. Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed. 1999;81:F125-9. Abstract
Imaging Findings:
Gospe SM, Jr., Hecht ST. Longitudinal MRI findings in pyridoxine-dependent seizures. Neurology. 1998;51:74-8. Abstract
Jardim LB, Pires RF, Martins CE, Vargas CR, Vizioli J, Kliemann FA, Giugliani R. Pyridoxine-dependent seizures associated with white matter abnormalities. Neuropediatrics. 1994;25:259-61. Abstract
Shih JJ, Kornblum H, Shewmon DA. Global brain dysfunction inan infant with pyridoxine dependency: evaluation with EEG, evoked potentials, MRI, and PET. Neurology. 1996;47:824-6. Abstract
Tanaka R, Okumura M, Arima J, Yamakura S, Momoi T. Pyridoxine-dependent seizures: report of a case with atypical clinical features and abnormal MRI scans. J Child Neurol. 1992;7:24-8. Abstract
Biochemistry and Genetics:
Baumeister FAM, Gsell W, Shin YS, Egger J. Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine. Pediatrics. 1994;94:318-21. < Abstract
Battaglioli G, Rosen DR, Gospe SM, Jr., Martin DL. Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. Neurology. 2000;55:309-311. Abstract
Bennett CL, Huynh HM, Chance PF, Glass IA, Gospe SM, Jr. Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. Neurogenetics. 2005;6:143-9. Abstract
Cormier-Daire V, Dagoneau N, Nabbout R, Burglen L, Penet C, Soufflet C, Desguerre I, Munnich A, Dulac O. A gene for pyridxoine-dependent epilepsy maps to chromosome 5q31. Am J Hum Genet. 2000;67:991-993. Abstract
Gospe SM Jr, Olin KL, Keen CL. Reduced GABA synthesis in pyridoxine-dependent seizures.Lancet. 1994;343:1133-4. Abstract
Kurlemann G, Loscher W, Dominick HC, Palm GD. Disappearance of neonatal seizures and low CSF GABA levels after treatment with vitamin B6. Epilepsy Res. 1987;1:152-4. Abstract
Kurlemann G, Ziegler R, Gruneberg M, Bomelburg T, Ullrich K, Palm DG. Disturbance of GABA metabolism in pyridoxine-dependent seizures. Neuropediatrics. 1992;23:257-9. Abstract
Kure S, Maeda T, Fukushima N, Ohura T, Takahashi K, Nishikawa T, Matsubara Y, Izumi T, Narisawa K. A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration. J Inherit Metab Dis. 1998;21:431-2. Abstract
Kure S, Sakata Y, Miyabayashi S, Takahashi K, Shinka T, Matsubara Y, Hoshino H, Narisawa K. Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. J Hum Genet. 1998;43:128-31. Abstract
Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nature Medicine. 2006;12:307-9. Abstract
Lott IT, Coulombe T, Di Paolo RV, Richardson EP Jr, Levy HL. Vitamin B6-dependent seizures: pathology and chemical findings in brain. Neurology. 1978;28:47-54. Abstract
Plecko B, Stockler-Ipsiroglu S, Paschke E, Erwa W, Struys E, Jakobs C. Pipecolic acid elevation in plasma and ceregrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol. 2000;48:121-5. Abstract
Plecko B, Hikel, C, Korenke, GC, Schmitt, B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stockler-Ipsiroglu S. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics. 2005;36:200-5. Abstract
Yoshida T, Tada K, Arakawa T. Vitamin B 6 -dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B 6 dependent convulsion. Tohoku J Exp Med. 1971;104:195-8. Abstract
©2006 Division of Pediatric Neurology, Department of Neurology, University of Washington, Children's Hospital and Regional Medical Center, Seattle, Washington.
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Last modified on 06/29/2006 2:59 PM